메뉴 건너뛰기




Volumn 64, Issue 2, 1999, Pages 570-577

Brachydactyly type B: Clinical description, genetic mapping to chromosome 9q, and evidence for a shared ancestral mutation

Author keywords

[No Author keywords available]

Indexed keywords

ACTIVIN RECEPTOR 1; PROTEIN SERINE THREONINE KINASE; TGF BETA TYPE I RECEPTOR; TGF-BETA TYPE I RECEPTOR; TRANSFORMING GROWTH FACTOR BETA RECEPTOR;

EID: 0033073979     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/302249     Document Type: Article
Times cited : (29)

References (41)
  • 1
    • 0038913228 scopus 로고
    • Hereditary abnormalities of the limbs, their origin and transmission
    • Bagg HJ (1925) Hereditary abnormalities of the limbs, their origin and transmission. Am J Anat 43:167-220
    • (1925) Am J Anat , vol.43 , pp. 167-220
    • Bagg, H.J.1
  • 2
    • 0014320288 scopus 로고
    • Familial absence of middle phalanges with nail dysplasia: A new syndrome
    • Bass HN (1968) Familial absence of middle phalanges with nail dysplasia: a new syndrome. Pediatrics 42:318-323
    • (1968) Pediatrics , vol.42 , pp. 318-323
    • Bass, H.N.1
  • 3
    • 0015613371 scopus 로고
    • MacKinder's hereditary brachydactyly: Phenotypic, radiological, dermatoglyphic and genetic observations in an Ontario family
    • Battle HI, Walker NF, Thompson MW (1973) MacKinder's hereditary brachydactyly: phenotypic, radiological, dermatoglyphic and genetic observations in an Ontario family. Ann Hum Genet 36:415-424
    • (1973) Ann Hum Genet , vol.36 , pp. 415-424
    • Battle, H.I.1    Walker, N.F.2    Thompson, M.W.3
  • 4
    • 84880589395 scopus 로고
    • A morphological analysis of the foot abnormalities occurring in the descendents of X-rayed mice
    • Bean AM (1925) A morphological analysis of the foot abnormalities occurring in the descendents of X-rayed mice. Am J Anat 43:221-246
    • (1925) Am J Anat , vol.43 , pp. 221-246
    • Bean, A.M.1
  • 5
  • 6
    • 0032577276 scopus 로고    scopus 로고
    • Noggin, cartilage morphogenesis, and joint formation in the mammalian skeleton
    • Brunet LJ, McMahon JA, McMahon AP, Harland RM (1998) Noggin, cartilage morphogenesis, and joint formation in the mammalian skeleton. Science 280:1455-1457
    • (1998) Science , vol.280 , pp. 1455-1457
    • Brunet, L.J.1    McMahon, J.A.2    McMahon, A.P.3    Harland, R.M.4
  • 7
    • 0032213514 scopus 로고    scopus 로고
    • Transforming growth factor β type I receptor kinase mutant associated with metastatic breast cancer
    • Chen T, Carter D, Garrigue-Antar L, Reiss M (1998) Transforming growth factor β type I receptor kinase mutant associated with metastatic breast cancer. Cancer Res 58: 4805-4810
    • (1998) Cancer Res , vol.58 , pp. 4805-4810
    • Chen, T.1    Carter, D.2    Garrigue-Antar, L.3    Reiss, M.4
  • 8
    • 0039505850 scopus 로고
    • Congenital hereditary absence of some of the digital phalanges
    • Clarke DS (1915) Congenital hereditary absence of some of the digital phalanges. Br Med J 2:255
    • (1915) Br Med J , vol.2 , pp. 255
    • Clarke, D.S.1
  • 9
    • 0021970380 scopus 로고
    • A new nail dysplasia syndrome with onychonychia and absence and/or hypoplasia of distal phalanges
    • Cooks RG, Hertz M, Katznelson MBM, Goodman RM (1985) A new nail dysplasia syndrome with onychonychia and absence and/or hypoplasia of distal phalanges. Clin Genet 27: 85-91
    • (1985) Clin Genet , vol.27 , pp. 85-91
    • Cooks, R.G.1    Hertz, M.2    Katznelson, M.B.M.3    Goodman, R.M.4
  • 10
    • 0039505860 scopus 로고
    • Hereditary absence of phalanges through five generations
    • Cragg E, Drinkwater H (1917) Hereditary absence of phalanges through five generations. J Genet 6:81-89
    • (1917) J Genet , vol.6 , pp. 81-89
    • Cragg, E.1    Drinkwater, H.2
  • 11
    • 0015013865 scopus 로고
    • Brachydactyly with absence of middle phalanges and hypoplastic nails
    • Cuevas-Sosa A, García-Segur F (1971) Brachydactyly with absence of middle phalanges and hypoplastic nails. J Bone Joint Surg 53:101-105
    • (1971) J Bone Joint Surg , vol.53 , pp. 101-105
    • Cuevas-Sosa, A.1    García-Segur, F.2
  • 12
    • 13344259999 scopus 로고    scopus 로고
    • A comprehensive genetic map of the human genome based on 5,264 microsatellites
    • Dib C, Faure S, Fizames C, Samson D, Drouot N, Vignal A, Millasseau P, et al (1996) A comprehensive genetic map of the human genome based on 5,264 microsatellites. Nature 380:152-154
    • (1996) Nature , vol.380 , pp. 152-154
    • Dib, C.1    Faure, S.2    Fizames, C.3    Samson, D.4    Drouot, N.5    Vignal, A.6    Millasseau, P.7
  • 13
    • 0031800728 scopus 로고    scopus 로고
    • Mutations in LMX1B cause abnormal skeletal patterning and renal dysplasia in nail patella syndrome
    • Dreyer SD, Zhou G, Baldini A, Winterpacht A, Zabel B, Cole W, Johnson RL, et al (1998) Mutations in LMX1B cause abnormal skeletal patterning and renal dysplasia in nail patella syndrome. Nat Genet 19:47-50
    • (1998) Nat Genet , vol.19 , pp. 47-50
    • Dreyer, S.D.1    Zhou, G.2    Baldini, A.3    Winterpacht, A.4    Zabel, B.5    Cole, W.6    Johnson, R.L.7
  • 14
    • 0018409706 scopus 로고
    • Classification and identification of inherited brachydactylies
    • Fitch N (1979) Classification and identification of inherited brachydactylies. J Med Genet 16:36-44
    • (1979) J Med Genet , vol.16 , pp. 36-44
    • Fitch, N.1
  • 15
    • 0039505857 scopus 로고
    • Hereditary brachydactylia and allied abnormalities in the rabbit
    • Greene H, Saxton J (1939) Hereditary brachydactylia and allied abnormalities in the rabbit. J Exp Med 69:301-314
    • (1939) J Exp Med , vol.69 , pp. 301-314
    • Greene, H.1    Saxton, J.2
  • 16
    • 0028001613 scopus 로고
    • Characteristic facies in type B brachydactyly?
    • Houlston RS, Temple IK (1994) Characteristic facies in type B brachydactyly? Clin Dysmorphol 3:224-227
    • (1994) Clin Dysmorphol , vol.3 , pp. 224-227
    • Houlston, R.S.1    Temple, I.K.2
  • 17
    • 85027471302 scopus 로고
    • Embryology of hereditary brachydactyly in the rabbit
    • Inman O (1941) Embryology of hereditary brachydactyly in the rabbit. Anat Rec 79:483-505
    • (1941) Anat Rec , vol.79 , pp. 483-505
    • Inman, O.1
  • 18
    • 0013562409 scopus 로고
    • Congenital anomalies
    • Ivy RH (1957) Congenital anomalies. Plast Reconstr Surg 20: 400-411
    • (1957) Plast Reconstr Surg , vol.20 , pp. 400-411
    • Ivy, R.H.1
  • 19
    • 0038818158 scopus 로고
    • Extract from a letter from Mr L. to Dr Kellie, Leith
    • Kellie DR (1808) Extract from a letter from Mr L. to Dr Kellie, Leith. Edinb Med Surg J 4:252
    • (1808) Edinb Med Surg J , vol.4 , pp. 252
    • Kellie, D.R.1
  • 20
    • 0022535431 scopus 로고
    • Autosomal dominant onychodystrophy and anonychia with type B brachydactyly and ectrodactyly
    • Kumar D, Levick RK (1986) Autosomal dominant onychodystrophy and anonychia with type B brachydactyly and ectrodactyly. Clin Genet 30:219-225
    • (1986) Clin Genet , vol.30 , pp. 219-225
    • Kumar, D.1    Levick, R.K.2
  • 21
  • 23
    • 0001657572 scopus 로고
    • Apical dystrophy an inherited defect of hands and feet
    • MacArthur JW, McCullough E (1932) Apical dystrophy an inherited defect of hands and feet. Hum Biol 4:179-207
    • (1932) Hum Biol , vol.4 , pp. 179-207
    • MacArthur, J.W.1    McCullough, E.2
  • 24
    • 0040691053 scopus 로고
    • Deficiency of fingers transmitted through six generations
    • MacKinder D (1857) Deficiency of fingers transmitted through six generations. Br Med J 1857:845-846
    • (1857) Br Med J , vol.1857 , pp. 845-846
    • MacKinder, D.1
  • 25
    • 0040691054 scopus 로고
    • Brachydactyly and symbrachydactyly
    • Malloch JD (1957) Brachydactyly and symbrachydactyly. Ann Hum Genet 22:36-37
    • (1957) Ann Hum Genet , vol.22 , pp. 36-37
    • Malloch, J.D.1
  • 28
    • 15444350405 scopus 로고    scopus 로고
    • Type I transforming growth factor β maps to 9q22 and exhibits a polymorphism and rare variant within a polyalanine tract
    • Pasche B, Luo Y, Rao PH, Nimer SD, Dmitrovsky E, Caron P, Luzzatto L, et al (1998) Type I transforming growth factor β maps to 9q22 and exhibits a polymorphism and rare variant within a polyalanine tract. Cancer Res 58:2727-2732
    • (1998) Cancer Res , vol.58 , pp. 2727-2732
    • Pasche, B.1    Luo, Y.2    Rao, P.H.3    Nimer, S.D.4    Dmitrovsky, E.5    Caron, P.6    Luzzatto, L.7
  • 29
    • 0021854061 scopus 로고
    • A new brachydactyly syndrome with similarities to Julia Bell types B and E
    • Pitt P, Williams I (1985) A new brachydactyly syndrome with similarities to Julia Bell types B and E. J Med Genet 22: 202-204
    • (1985) J Med Genet , vol.22 , pp. 202-204
    • Pitt, P.1    Williams, I.2
  • 33
    • 0030140024 scopus 로고    scopus 로고
    • Severe autosomal dominant hypertension and brachydactyly in a unique Turkish kindred maps to human chromosome 12
    • Schuster H, Wienker TE, Bahring S, Bilginturan N, Toka HR, Neitzel H, Jeschke E, et al (1996) Severe autosomal dominant hypertension and brachydactyly in a unique Turkish kindred maps to human chromosome 12. Nat Genet 13: 98-100
    • (1996) Nat Genet , vol.13 , pp. 98-100
    • Schuster, H.1    Wienker, T.E.2    Bahring, S.3    Bilginturan, N.4    Toka, H.R.5    Neitzel, H.6    Jeschke, E.7
  • 34
    • 0017200340 scopus 로고
    • The study of genetic variation in Nigeria. II. The genetics of polydactyly
    • Scott-Emuakpor AB, Madueke EDN (1976) The study of genetic variation in Nigeria. II. The genetics of polydactyly. Hum Hered 26:198-202
    • (1976) Hum Hered , vol.26 , pp. 198-202
    • Scott-Emuakpor, A.B.1    Madueke, E.D.N.2
  • 35
    • 0027964261 scopus 로고
    • Mutations in the transmembrane domain of FGFR3 cause the most common genetic form of dwarfism, achondroplasia
    • Shiang R, Thompson LM, Zhu Y-Z, Church DM, Fielder TJ, Bocian M, Winokur ST, et al (1994) Mutations in the transmembrane domain of FGFR3 cause the most common genetic form of dwarfism, achondroplasia. Cell 78:335-342
    • (1994) Cell , vol.78 , pp. 335-342
    • Shiang, R.1    Thompson, L.M.2    Zhu, Y.-Z.3    Church, D.M.4    Fielder, T.J.5    Bocian, M.6    Winokur, S.T.7
  • 36
    • 0023884205 scopus 로고
    • Sorsby syndrome: A report on further generations of the original family
    • Thompson EM, Baraitser M (1988) Sorsby syndrome: a report on further generations of the original family. J Med Genet 25:313-321
    • (1988) J Med Genet , vol.25 , pp. 313-321
    • Thompson, E.M.1    Baraitser, M.2
  • 37
    • 0025305697 scopus 로고
    • A new syndrome of dwarfism, brachydactyly, nail dysplasia, and mental retardation in sibs
    • Tonoki H, Kishino T, Niikavva N (1990) A new syndrome of dwarfism, brachydactyly, nail dysplasia, and mental retardation in sibs. Am J Med Genet 36:89-93
    • (1990) Am J Med Genet , vol.36 , pp. 89-93
    • Tonoki, H.1    Kishino, T.2    Niikavva, N.3
  • 38
    • 0031453669 scopus 로고    scopus 로고
    • Cloning and genomic organization of the human transforming growth factor-b type I receptor gene
    • Vellucci VF, Reiss M (1997) Cloning and genomic organization of the human transforming growth factor-b type I receptor gene. Genomics 46:278-283
    • (1997) Genomics , vol.46 , pp. 278-283
    • Vellucci, V.F.1    Reiss, M.2
  • 40
    • 0038913216 scopus 로고
    • Hereditary phalangeal agenesis showing dominant Mendelian characteristics
    • Wells NH, Platt M (1934) Hereditary phalangeal agenesis showing dominant Mendelian characteristics. Arch Dis Child 22:251-252
    • (1934) Arch Dis Child , vol.22 , pp. 251-252
    • Wells, N.H.1    Platt, M.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.