-
1
-
-
0025086847
-
A distinctive triad of malformations of the central nervous system in the Meckel-Gruber syndrome
-
Ahdab-Barmada M, Claassen D. A distinctive triad of malformations of the central nervous system in the Meckel-Gruber syndrome. J Neuropathol Exp Neurol 1990;49:610-620.
-
(1990)
J Neuropathol Exp Neurol
, vol.49
, pp. 610-620
-
-
Ahdab-Barmada, M.1
Claassen, D.2
-
2
-
-
35348856397
-
A disease causing deletion of 29 base pairs in intron 15 in the MKS1 gene is highly associated with the campomelic variant of the Meckel-Gruber syndrome
-
Auber B, Burfeind P, Herold S, et al. A disease causing deletion of 29 base pairs in intron 15 in the MKS1 gene is highly associated with the campomelic variant of the Meckel-Gruber syndrome. Clin Genet 2007;72:454-459.
-
(2007)
Clin Genet
, vol.72
, pp. 454-459
-
-
Auber, B.1
Burfeind, P.2
Herold, S.3
-
3
-
-
34247481893
-
Meckel syndrome: Genetics, perinatal findings, and differential diagnosis
-
Chen CP. Meckel syndrome: genetics, perinatal findings, and differential diagnosis. Taiwan J Obstet Gynecol 2007;46:9-14.
-
(2007)
Taiwan J Obstet Gynecol
, vol.46
, pp. 9-14
-
-
Chen, C.P.1
-
4
-
-
0346362335
-
Features described and illustrated in 1684 suggesting Meckel-Gruber syndrome
-
Kompanje EJ. Features described and illustrated in 1684 suggesting Meckel-Gruber syndrome. Pediatr Dev Pathol 2003;6:595-598.
-
(2003)
Pediatr Dev Pathol
, vol.6
, pp. 595-598
-
-
Kompanje, E.J.1
-
5
-
-
0031440348
-
Clinical and genetic heterogeneity in Meckel syndrome
-
DOI 10.1007/s004390050592
-
Paavola P, Salonen R, Baumer A, et al. Clinical and genetic heterogeneity in Meckel syndrome. Hum Genet 1997;101:88-92. (Pubitemid 28014648)
-
(1997)
Human Genetics
, vol.101
, Issue.1
, pp. 88-92
-
-
Paavola, P.1
Salonen, R.2
Baumer, A.3
Schinzel, A.4
Boyd, P.A.5
Gould, S.6
Meusburger, H.7
Tenconi, R.8
Barnicoat, A.9
Winter, R.10
Peltonen, L.11
-
7
-
-
0021280772
-
The Meckel syndrome: Clinicopathological findings in 67 patients
-
Salonen R. The Meckel syndrome: clinicopathological findings in 67 patients. Am J Med Genet 1984;18:671-689. (Pubitemid 14074995)
-
(1984)
American Journal of Medical Genetics
, vol.18
, Issue.4
, pp. 671-689
-
-
Salonen, R.1
-
8
-
-
33746706805
-
Meckel-Gruber syndrome: Pathologic manifestations, minimal diagnostic criteria, and differential diagnosis
-
Alexiev BA, Lin X, Sun CC, Brenner DS. Meckel-Gruber syndrome: pathologic manifestations, minimal diagnostic criteria, and differential diagnosis. Arch Pathol Lab Med 2006;130:1236-1238.
-
(2006)
Arch Pathol Lab Med
, vol.130
, pp. 1236-1238
-
-
Alexiev, B.A.1
Lin, X.2
Sun, C.C.3
Brenner, D.S.4
-
9
-
-
0002490539
-
Meckel-Gruber Syndrome
-
Jones KL, ed. Philadelphia: Elsevier Saunders
-
Jones KL. Meckel-Gruber Syndrome. In: Jones KL, ed. Smith's Recognizable Patterns of Human Malformation. Philadelphia: Elsevier Saunders; 2006:198-199.
-
(2006)
Smith's Recognizable Patterns of Human Malformation
, pp. 198-199
-
-
Jones, K.L.1
-
10
-
-
0019416725
-
Phenotypic variation in Meckel syndrome
-
Seller MJ. Phenotypic variation in Meckel syndrome. Clin Genet 1981;20:74-77.
-
(1981)
Clin Genet
, vol.20
, pp. 74-77
-
-
Seller, M.J.1
-
11
-
-
0000326718
-
The Meckel syndrome (Dysencephalia splanchnocystica, the Gruber syndrome)
-
Opitz JM, Howe JJ. The Meckel syndrome (Dysencephalia splanchnocystica, the Gruber syndrome). Birth Defects 1969;2: 167-179.
-
(1969)
Birth Defects
, vol.2
, pp. 167-179
-
-
Opitz, J.M.1
Howe, J.J.2
-
12
-
-
0021253299
-
The Meckel syndrome in Finland: Epidemiologic and genetic aspects
-
Salonen R, Norio R. The Meckel syndrome in Finland: epidemiologic and genetic aspects. Am J Med Genet 1984;18:691-698.
-
(1984)
Am J Med Genet
, vol.18
, pp. 691-698
-
-
Salonen, R.1
Norio, R.2
-
13
-
-
4344627602
-
Prenatal diagnosis of the Meckel-Gruber syndrome from 11th to 20th gestational week
-
Mittermayer C, Lee A, Brugger PC. Prenatal diagnosis of the Meckel-Gruber syndrome from 11th to 20th gestational week. Ultraschall Med 2004;25:275-279.
-
(2004)
Ultraschall Med
, vol.25
, pp. 275-279
-
-
Mittermayer, C.1
Lee, A.2
Brugger, P.C.3
-
14
-
-
0031030494
-
Diagnosis of the Meckel-Gruber syndrome at eleven to fourteen weeks' gestation
-
DOI 10.1016/S0002-9378(97)70491-5
-
Sepulveda W, Sebire NJ, Souka A, Snijders RJ, Nicolaides KH. Diagnosis of the Meckel-Gruber syndrome at eleven to fourteen weeks' gestation. Am J Obstet Gynecol 1997;176:316-319. (Pubitemid 27107915)
-
(1997)
American Journal of Obstetrics and Gynecology
, vol.176
, Issue.2
, pp. 316-319
-
-
Sepulveda, W.1
Sebire, N.J.2
Souka, A.3
Snijders, R.J.M.4
Nicolaides, K.H.5
-
15
-
-
0024991680
-
Phenotypic variability in Meckel-Gruber syndrome
-
Farag TI, Usha R, Uma R, Mady SA, al-Nagdy K, el-Badramany MH. Phenotypic variability in Meckel-Gruber syndrome. Clin Genet 1990;38:176-179.
-
(1990)
Clin Genet
, vol.38
, pp. 176-179
-
-
Farag, T.I.1
Usha, R.2
Uma, R.3
Mady, S.A.4
Al-Nagdy, K.5
El-Badramany, M.H.6
-
16
-
-
0035182604
-
Unusual finding of cor triatriatum in a newborn with hypoplastic left heart syndrome
-
Eidem BW, Cetta F. Unusual finding of cor triatriatum in a newborn with hypoplastic left heart syndrome. J Am Soc Echocardiogr 2001; 14:850-852.
-
(2001)
J Am Soc Echocardiogr
, vol.14
, pp. 850-852
-
-
Eidem, B.W.1
Cetta, F.2
-
17
-
-
0026718846
-
Understanding the nature of congenital division of the atrial chambers
-
Anderson RH. Understanding the nature of congenital division of the atrial chambers. Br Heart J 1992;68:1-3.
-
(1992)
Br Heart J
, vol.68
, pp. 1-3
-
-
Anderson, R.H.1
-
18
-
-
20144374124
-
Divided left atrium with obstruction of pulmonary venous return in the setting of hypoplasia of the left heart
-
Monaco SE, Gersony WM, Thaker HM. Divided left atrium with obstruction of pulmonary venous return in the setting of hypoplasia of the left heart. Cardiol Young 2004;14:553-556.
-
(2004)
Cardiol Young
, vol.14
, pp. 553-556
-
-
Monaco, S.E.1
Gersony, W.M.2
Thaker, H.M.3
-
19
-
-
0033561215
-
Preoperative management of pulmonary venous hypertension in hypoplastic left heart syndrome with restrictive atrial septal defect
-
DOI 10.1016/S0002-9149(99)00087-9, PII S0002914999000879
-
Atz AM, Feinstein JA, Jonas RA, Perry SB, Wessel DL. Preoperative management of pulmonary venous hypertension in hypoplastic left heart syndrome with restrictive atrial septal defect. Am J Cardiol 1999 15;83:1224-1228. (Pubitemid 29183922)
-
(1999)
American Journal of Cardiology
, vol.83
, Issue.8
, pp. 1224-1228
-
-
Atz, A.M.1
Feinstein, J.A.2
Jonas, R.A.3
Perry, S.B.4
Wessel, D.L.5
-
20
-
-
0034119237
-
The hypoplastic heart in congenital diaphragmatic hernia: Reduced expression of basic fibroblast growth factor and platelet-derived growth factor
-
DOI 10.1007/s003830050737
-
Guarino N, Shima H, Puri P. The hypoplastic heart in congenital diaphragmatic hernia: reduced expression of basic fibroblast growth factor and platelet-derived growth factor. Pediatr Surg Int 2000;16: 243-246. (Pubitemid 30349057)
-
(2000)
Pediatric Surgery International
, vol.16
, Issue.4
, pp. 243-246
-
-
Guarino, N.1
Shima, H.2
Puri, P.3
-
21
-
-
0025326517
-
Congenital brain anomalies associated with the hypoplastic left heart syndrome
-
Glauser TA, Rorke LB, Weinberg PM, Clancy RR. Congenital brain anomalies associated with the hypoplastic left heart syndrome. Pediatrics 1990;85:984-990. (Pubitemid 20184718)
-
(1990)
Pediatrics
, vol.85
, Issue.6
, pp. 984-990
-
-
Glauser, T.A.1
Rorke, L.B.2
Weinberg, P.M.3
Clancy, R.R.4
-
22
-
-
42949149610
-
Management of 239 patients with hypoplastic left heart syndrome and related malformations from 1993 to 2007
-
Jacobs JP, O'Brien SM, Chai PJ, Morell VO, Lindberg HL, Quintessenza JA. Management of 239 patients with hypoplastic left heart syndrome and related malformations from 1993 to 2007. Ann Thorac Surg 2008;85:1691-1697.
-
(2008)
Ann Thorac Surg
, vol.85
, pp. 1691-1697
-
-
Jacobs, J.P.1
O'Brien, S.M.2
Chai, P.J.3
Morell, V.O.4
Lindberg, H.L.5
Quintessenza, J.A.6
-
23
-
-
34347324031
-
The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome
-
DOI 10.1038/ng2039, PII NG2039
-
Delous M, Baala L, Salomon R, et al. The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome. Nat Genet 2007;39:875-881. (Pubitemid 47014487)
-
(2007)
Nature Genetics
, vol.39
, Issue.7
, pp. 875-881
-
-
Delous, M.1
Baala, L.2
Salomon, R.3
Laclef, C.4
Vierkotten, J.5
Tory, K.6
Golzio, C.7
Lacoste, T.8
Besse, L.9
Ozilou, C.10
Moutkine, I.11
Hellman, N.E.12
Anselme, I.13
Silbermann, F.14
Vesque, C.15
Gerhardt, C.16
Rattenberry, E.17
Wolf, M.T.F.18
Gubler, M.C.19
Martinovic, J.20
Encha-Razavi, F.21
Boddaert, N.22
Gonzales, M.23
Macher, M.A.24
Nivet, H.25
Champion, G.26
Bertheleme, J.P.27
Niaudet, P.28
McDonald, F.29
Hildebrandt, F.30
Johnson, C.A.31
Vekemans, M.32
Antignac, C.33
Ruther, U.34
Schneider-Maunoury, S.35
Attie-Bitach, T.36
Saunier, S.37
more..
-
24
-
-
33846076617
-
The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndrome
-
DOI 10.1086/510499
-
Baala L, Romano S, Khaddour R, et al. The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndrome. Am J Hum Genet 2007;80:186-194. (Pubitemid 46055178)
-
(2007)
American Journal of Human Genetics
, vol.80
, Issue.1
, pp. 186-194
-
-
Baala, L.1
Romano, S.2
Khaddour, R.3
Saunier, S.4
Smith, U.M.5
Audollent, S.6
Ozilou, C.7
Faivre, L.8
Laurent, N.9
Foliguet, B.10
Munnich, A.11
Lyonnet, S.12
Salomon, R.13
Encha-Razavi, F.14
Gubler, M.-C.15
Boddaert, N.16
De Lonlay, P.17
Johnson, C.A.18
Vekemans, M.19
Antignac, C.20
Attie-Bitach, T.21
more..
-
25
-
-
48349109103
-
Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndrome
-
Cantagrel V, Silhavy JL, Bielas SL, et al. Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndrome. Am J Hum Genet 2008;83:170-179.
-
(2008)
Am J Hum Genet
, vol.83
, pp. 170-179
-
-
Cantagrel, V.1
Silhavy, J.L.2
Bielas, S.L.3
-
26
-
-
13844292417
-
Antenatal presentation of Bardet-Biedl syndrome may mimic Meckel syndrome
-
DOI 10.1086/428679
-
Karmous-Benailly H, Martinovic J, Gubler MC, et al. Antenatal presentation of Bardet-Biedl syndrome may mimic Meckel syndrome. Am J Hum Genet 2005;76:493-504. (Pubitemid 40250528)
-
(2005)
American Journal of Human Genetics
, vol.76
, Issue.3
, pp. 493-504
-
-
Karmous-Benailly, H.1
Martinovic, J.2
Gubler, M.-C.3
Sirot, Y.4
Clech, L.5
Ozilou, C.6
Auge, J.7
Brahimi, N.8
Etchevers, H.9
Detrait, E.10
Esculpavit, C.11
Audollent, S.12
Goudefroye, G.13
Gonzales, M.14
Tantau, J.15
Loget, P.16
Joubert, M.17
Gaillard, D.18
Jeanne-Pasquier, C.19
Delezoide, A.-L.20
Peter, M.-O.21
Plessis, G.22
Simon-Bouy, B.23
Dollfus, H.24
Le Merrer, M.25
Munnich, A.26
Encha-Razavi, F.27
Vekemans, M.28
Attie-Bitach, T.29
more..
-
27
-
-
41349103272
-
Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome
-
Leitch CC, Zaghloul NA, Davis EE, et al. Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome. Nat Genet 2008;40:443-448.
-
(2008)
Nat Genet
, vol.40
, pp. 443-448
-
-
Leitch, C.C.1
Zaghloul, N.A.2
Davis, E.E.3
-
28
-
-
0033901344
-
Exclusion of the Ellis-van Creveld region of chromosome 4p 16 in some families with asphyxiating thoracic dystrophy and short-rib polydactyly syndromes
-
DOI 10.1038/sj.ejhg.5200507
-
Krakow D, Salazar D, Wilcox WR, Rimoin DL, Cohn DH. Exclusion of the Ellis-van Creveld region on chromosome 4p16 in some families with asphyxiating thoracic dystrophy and short-rib polydactyly syndromes. Eur J Hum Genet 2000;8:645-648. (Pubitemid 30639373)
-
(2000)
European Journal of Human Genetics
, vol.8
, Issue.8
, pp. 645-648
-
-
Krakow, D.1
Salazar, D.2
Wilcox, W.R.3
Rimoin, D.L.4
Cohn, D.H.5
-
29
-
-
0037945371
-
Hepatic manifestations of Jeune syndrome (asphyxiating thoracic dystrophy)
-
DOI 10.1055/s-2003-39950
-
Yerian LM, Brady L, Hart J. Hepatic manifestations of Jeune syndrome (asphyxiating thoracic dystrophy). Semin Liver Dis 2003; 23:195-200. (Pubitemid 36666688)
-
(2003)
Seminars in Liver Disease
, vol.23
, Issue.2
, pp. 195-200
-
-
Yerian, L.M.1
Brady, L.2
Hart, J.3
-
30
-
-
41549092173
-
Loss of nephrocystin-3 function can cause embryonic lethality, Meckel-Gruber-like syndrome, situs inversus, and renal-hepatic-pancreatic dysplasia
-
Bergmann C, Fliegauf M, Bruchle NO, et al. Loss of nephrocystin-3 function can cause embryonic lethality, Meckel-Gruber-like syndrome, situs inversus, and renal-hepatic-pancreatic dysplasia. Am J Hum Genet 2008;82:959-970.
-
(2008)
Am J Hum Genet
, vol.82
, pp. 959-970
-
-
Bergmann, C.1
Fliegauf, M.2
Bruchle, N.O.3
-
31
-
-
0034639289
-
Renal-hepatic-pancreatic dysplasia: A broad entity
-
White SM, Hurst JA, Hamoda H, Chamberlain P, Bowker CM. Renal-hepatic-pancreatic dysplasia: a broad entity. Am J Med Genet 2000;95:399-400.
-
(2000)
Am J Med Genet
, vol.95
, pp. 399-400
-
-
White, S.M.1
Hurst, J.A.2
Hamoda, H.3
Chamberlain, P.4
Bowker, C.M.5
-
32
-
-
0036509712
-
The gene mutated in autosomal recessive polycystic kidney disease encodes a large, receptor-like protein
-
DOI 10.1038/ng833
-
Ward CJ, Hogan MC, Rossetti S, et al. The gene mutated in autosomal recessive polycystic kidney disease encodes a large, receptor-like protein. Nat Genet 2002;30:259-269. (Pubitemid 34887683)
-
(2002)
Nature Genetics
, vol.30
, Issue.3
, pp. 259-269
-
-
Ward, C.J.1
Hogan, M.C.2
Rossetti, S.3
Walker, D.4
Sneddon, T.5
Wang, X.6
Kubly, V.7
Cunningham, J.M.8
Bacallao, R.9
Ishibashi, M.10
Milliner, D.S.11
Torres, V.E.12
Harris, P.C.13
-
33
-
-
0036707803
-
Early detection of severe cholestatic hepatopathy in COACH syndrome
-
DOI 10.1002/ajmg.10614
-
Foell D, August C, Frosch M, Harms E, Zimmer KP. Early detection of severe cholestatic hepatopathy in COACH syndrome. Am J Med Genet 2002;111:429-434. (Pubitemid 34894634)
-
(2002)
American Journal of Medical Genetics
, vol.111
, Issue.4
, pp. 429-434
-
-
Foell, D.1
August, C.2
Frosch, M.3
Harms, E.4
Zimmer, K.-P.5
-
34
-
-
47149084412
-
RPGRIP1L mutations are mainly associated with the cerebello-renal phenotype of Joubert syndrome-related disorders
-
Brancati F, Travaglini L, Zablocka D, et al. RPGRIP1L mutations are mainly associated with the cerebello-renal phenotype of Joubert syndrome-related disorders. Clin Genet 2008;74:164-170.
-
(2008)
Clin Genet
, vol.74
, pp. 164-170
-
-
Brancati, F.1
Travaglini, L.2
Zablocka, D.3
-
35
-
-
0036820541
-
A novel locus for Meckel-Gruber syndrome, MKS3, maps to chromosome 8q24
-
DOI 10.1007/s00439-002-0817-0
-
Morgan NV, Gissen P, Sharif SM, et al. A novel locus for Meckel- Gruber syndrome, MKS3, maps to chromosome 8q24. Hum Genet 2002;111:456-461. (Pubitemid 36075076)
-
(2002)
Human Genetics
, vol.111
, Issue.4-5
, pp. 456-461
-
-
Morgan, N.V.1
Gissen, P.2
Sharif, S.M.3
Baumber, L.4
Sutherland, J.5
Kelly, D.A.6
Aminu, K.7
Bennett, C.P.8
Woods, C.G.9
Mueller, R.F.10
Trembath, R.C.11
Maher, E.12
Johnson, C.A.13
-
36
-
-
0028980029
-
The locus for Meckel syndrome with multiple congenital anomalies maps to chromosome 17q21-q24
-
Paavola P, Salonen R, Weissenbach J, Peltonen L. The locus for Meckel syndrome with multiple congenital anomalies maps to chromosome 17q21-q24. Nat Genet 1995;11:213-215.
-
(1995)
Nat Genet
, vol.11
, pp. 213-215
-
-
Paavola, P.1
Salonen, R.2
Weissenbach, J.3
Peltonen, L.4
-
37
-
-
34347224779
-
Pleiotropic effects of CEP290 (NPHP6) mutations extend to Meckel syndrome
-
DOI 10.1086/519494
-
Baala L, Audollent S, Martinovic J, et al. Pleiotropic effects of CEP290 (NPHP6) mutations extend to Meckel syndrome. Am J Hum Genet 2007;81:170-179. (Pubitemid 47001167)
-
(2007)
American Journal of Human Genetics
, vol.81
, Issue.1
, pp. 170-179
-
-
Baala, L.1
Audollent, S.2
Martinovic, J.3
Ozilou, C.4
Babron, M.-C.5
Sivanandamoorthy, S.6
Saunier, S.7
Salomon, R.8
Gonzales, M.9
Rattenberry, E.10
Esculpavit, C.11
Toutain, A.12
Moraine, C.13
Parent, P.14
Marcorelles, P.15
Dauge, M.-C.16
Roume, J.17
Merrer, M.L.18
Meiner, V.19
Meir, K.20
Menez, F.21
Beaufrere, A.-M.22
Francannet, C.23
Tantau, J.24
Sinico, M.25
Dumez, Y.26
MacDonald, F.27
Munnich, A.28
Lyonnet, S.29
Gubler, M.-C.30
Genin, E.31
Johnson, C.A.32
Vekemans, M.33
Encha-Razavi, F.34
Attie-Bitach, T.35
more..
-
38
-
-
44449130822
-
Identification of CC2D2A as a Meckel syndrome gene adds an important piece to the ciliopathy puzzle
-
Tallila J, Jakkula E, Peltonen L, Salonen R, Kestila M. Identification of CC2D2A as a Meckel syndrome gene adds an important piece to the ciliopathy puzzle. Am J Hum Genet 2008;82: 1361-1367.
-
(2008)
Am J Hum Genet
, vol.82
, pp. 1361-1367
-
-
Tallila, J.1
Jakkula, E.2
Peltonen, L.3
Salonen, R.4
Kestila, M.5
-
39
-
-
38149045761
-
Mutations of the CEP290 gene encoding a centrosomal protein cause Meckel-Gruber syndrome
-
Frank V, den Hollander AI, Bruchle NO, et al. Mutations of the CEP290 gene encoding a centrosomal protein cause Meckel-Gruber syndrome. Hum Mutat 2008;29:45-52.
-
(2008)
Hum Mutat
, vol.29
, pp. 45-52
-
-
Frank, V.1
Den Hollander, A.I.2
Bruchle, N.O.3
-
40
-
-
38349018369
-
The cell biological basis of ciliary disease
-
Marshall WF. The cell biological basis of ciliary disease. J Cell Biol 2008;180:17-21.
-
(2008)
J Cell Biol
, vol.180
, pp. 17-21
-
-
Marshall, W.F.1
-
41
-
-
34250680203
-
Spectrum of MKS1 and MKS3 mutations in Meckel syndrome: A genotype-phenotype correlation. Mutation in brief #960
-
Khaddour R, Smith U, Baala L, et al. Spectrum of MKS1 and MKS3 mutations in Meckel syndrome: a genotype-phenotype correlation. Mutation in brief #960. Hum Mutat 2007;28:523-524.
-
(2007)
Hum Mutat
, vol.28
, pp. 523-524
-
-
Khaddour, R.1
Smith, U.2
Baala, L.3
-
42
-
-
34248223631
-
Molecular diagnostics of Meckel-Gruber syndrome highlights phenotypic differences between MKS1 and MKS3
-
Consugar MB, Kubly VJ, Lager DJ, et al. Molecular diagnostics of Meckel-Gruber syndrome highlights phenotypic differences between MKS1 and MKS3. Hum Genet 2007;121:591-599.
-
(2007)
Hum Genet
, vol.121
, pp. 591-599
-
-
Consugar, M.B.1
Kubly, V.J.2
Lager, D.J.3
-
43
-
-
63949085505
-
Mutations of NPHP2 and NPHP3 in infantile nephronophthisis
-
Tory K, Rousset-Rouviere C, Gubler MC, et al. Mutations of NPHP2 and NPHP3 in infantile nephronophthisis. Kidney Int 2009; 75:839-847.
-
(2009)
Kidney Int
, vol.75
, pp. 839-847
-
-
Tory, K.1
Rousset-Rouviere, C.2
Gubler, M.C.3
|