-
1
-
-
0029998680
-
Mental retardation, short stature, and skeletal dysplasia: Confirmation of the Gurrieri syndrome
-
Battaglia A, Orsitto E, Gibilisco G (1996) Mental retardation, short stature, and skeletal dysplasia: confirmation of the Gurrieri syndrome. Am J Med Genet 62:230-232
-
(1996)
Am J Med Genet
, vol.62
, pp. 230-232
-
-
Battaglia, A.1
Orsitto, E.2
Gibilisco, G.3
-
2
-
-
0018971248
-
Spondylo-epimetaphyseal dysplasia with joint laxity and severe, progressive kyphoscoliosis
-
Beighton P, Kozlowski K (1980) Spondylo-epimetaphyseal dysplasia with joint laxity and severe, progressive kyphoscoliosis. Skeletal Radiol 5:205-212
-
(1980)
Skeletal Radiol
, vol.5
, pp. 205-212
-
-
Beighton, P.1
Kozlowski, K.2
-
4
-
-
0028365447
-
New X linked spondyloepimetaphyseal dysplasia: Report on eight affected males in the same family
-
Camera G, Stella G, Camera A (1994) New X linked spondyloepimetaphyseal dysplasia: report on eight affected males in the same family. J Med Genet 31:371-376
-
(1994)
J Med Genet
, vol.31
, pp. 371-376
-
-
Camera, G.1
Stella, G.2
Camera, A.3
-
5
-
-
0030022507
-
Two brothers with deafness, femoral epiphyseal dysplasia, short stature and developmental delay
-
Chitty LS, Hall CM, Baraitser M (1996) Two brothers with deafness, femoral epiphyseal dysplasia, short stature and developmental delay. Clin Dysmorph 5:17-25
-
(1996)
Clin Dysmorph
, vol.5
, pp. 17-25
-
-
Chitty, L.S.1
Hall, C.M.2
Baraitser, M.3
-
6
-
-
0026662917
-
New autosomal recessive syndrome of mental retardation, epilepsy, short stature and skeletal dysplasia
-
Gurrieri F, Sammito V, Bellussi A, Neri G (1992) New autosomal recessive syndrome of mental retardation, epilepsy, short stature and skeletal dysplasia. Am J Med Genet 44:315-320
-
(1992)
Am J Med Genet
, vol.44
, pp. 315-320
-
-
Gurrieri, F.1
Sammito, V.2
Bellussi, A.3
Neri, G.4
-
7
-
-
0031055673
-
Kenny-Caffey syndrome in six Bedouin sibships: Autosomal recessive inheritance is confirmed
-
Khan KTS, Uma R, Usha R, Al Ghanem MM, Al Awadi SA, Farag TI (1997) Kenny-Caffey syndrome in six Bedouin sibships: autosomal recessive inheritance is confirmed. Am J Med Genet 69:126-132
-
(1997)
Am J Med Genet
, vol.69
, pp. 126-132
-
-
Khan, K.T.S.1
Uma, R.2
Usha, R.3
Al Ghanem, M.M.4
Al Awadi, S.A.5
Farag, T.I.6
-
8
-
-
0032574662
-
Lethal syndrome of skeletal dysplasia and progressive central nervous system degeneration
-
Khosravi M, Weaver DD, Bull MJ, Lachman R, Rimoin DL (1998) Lethal syndrome of skeletal dysplasia and progressive central nervous system degeneration. Am J Med Genet 77:63-71
-
(1998)
Am J Med Genet
, vol.77
, pp. 63-71
-
-
Khosravi, M.1
Weaver, D.D.2
Bull, M.J.3
Lachman, R.4
Rimoin, D.L.5
-
9
-
-
0023220355
-
Spondyloepiphyseal dysplasia tarda: A new autosomal recessive variant with mental retardation
-
Kohn G, Elrayyes ER, Makadmah I, Rosler A, Grunebaum M (1987) Spondyloepiphyseal dysplasia tarda: a new autosomal recessive variant with mental retardation. J Med Genet 24:366-377
-
(1987)
J Med Genet
, vol.24
, pp. 366-377
-
-
Kohn, G.1
Elrayyes, E.R.2
Makadmah, I.3
Rosler, A.4
Grunebaum, M.5
-
10
-
-
0027519401
-
Short stature, mental retardation, craniosynostosis, Klippel-Feil syndrome, Scheuerman kyphosis, rib gaps and other distinctive skeletal and genital anomalies
-
Kozlowski K, Sillence D, Taylor F (1993) Short stature, mental retardation, craniosynostosis, Klippel-Feil syndrome, Scheuerman kyphosis, rib gaps and other distinctive skeletal and genital anomalies. Pediatr Radiol 23:442-445
-
(1993)
Pediatr Radiol
, vol.23
, pp. 442-445
-
-
Kozlowski, K.1
Sillence, D.2
Taylor, F.3
-
11
-
-
0022539960
-
Syndrome of short stature, microcephaly, mental retardation and multiple epiphyseal dysplasia-Lowry-Wood syndrome
-
Nevin NC, Thomas PS, Hutchinson J (1986) Syndrome of short stature, microcephaly, mental retardation and multiple epiphyseal dysplasia-Lowry-Wood syndrome. Am J Med Genet 24:33-39
-
(1986)
Am J Med Genet
, vol.24
, pp. 33-39
-
-
Nevin, N.C.1
Thomas, P.S.2
Hutchinson, J.3
-
12
-
-
0029782239
-
Mental retardation, megaepiphyses, ulnar pseudoepiphyses, hypoplastic fibulae, brachymesophalangia: A new syndrome
-
Nishimura G, Kozlowski K, Tachibana K, Kameshita K, Ohba S (1996) Mental retardation, megaepiphyses, ulnar pseudoepiphyses, hypoplastic fibulae, brachymesophalangia: a new syndrome. Pediatr Radiol 26:556-558
-
(1996)
Pediatr Radiol
, vol.26
, pp. 556-558
-
-
Nishimura, G.1
Kozlowski, K.2
Tachibana, K.3
Kameshita, K.4
Ohba, S.5
-
13
-
-
0032574638
-
Previously undescribed spondyloepiphyseal dysplasia associated with craniosynostosis, cataracts, cleft palate and mental retardation: Report of four sibs
-
Nishimura G, Fukushima Y, Aihara T, Ohashi H, Nishimoto H, Nishimura J (1998) Previously undescribed spondyloepiphyseal dysplasia associated with craniosynostosis, cataracts, cleft palate and mental retardation: report of four sibs. Am J Med Genet 77:1-7
-
(1998)
Am J Med Genet
, vol.77
, pp. 1-7
-
-
Nishimura, G.1
Fukushima, Y.2
Aihara, T.3
Ohashi, H.4
Nishimoto, H.5
Nishimura, J.6
-
15
-
-
0018946456
-
X-linked Dyggve-Melchior-Clausen syndrome
-
Yunis E, Fontalvo J, Quintero L (1980) X-linked Dyggve-Melchior-Clausen syndrome. Clin Genet 18:284-290
-
(1980)
Clin Genet
, vol.18
, pp. 284-290
-
-
Yunis, E.1
Fontalvo, J.2
Quintero, L.3
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