Literature DB >> 5667420

Hereditary dysplasia of bone with kyphoscoliosis, contractures, and abnormally shaped ears.

C J Epstein, C B Graham, W E Hodgkin, F Hecht, A G Motulsky.   

Abstract

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Year:  1968        PMID： 5667420     DOI： 10.1016/s0022-3476(68)80115-5

Source DB:  PubMed          Journal:  J Pediatr        ISSN： 0022-3476            Impact factor:   4.406


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  9 in total

1.  Familial occurrence of typical and severe lethal congenital contractural arachnodactyly caused by missplicing of exon 34 of fibrillin-2.

Authors:  M Wang; C L Clericuzio; M Godfrey
Journal:  Am J Hum Genet       Date:  1996-11       Impact factor: 11.025

2.  2010 Victor A. McKusick Leadership Award introduction and address.

Authors:  Arno Motulsky; Charles J Epstein
Journal:  Am J Hum Genet       Date:  2011-03-11       Impact factor: 11.025

3.  The clinical spectrum of congenital contractural arachnodactyly. A case with congenital heart disease.

Authors:  E H Lipson; C Viseskul; J Herrmann
Journal:  Z Kinderheilkd       Date:  1974

4.  Congenital contractural arachnodactyly.

Authors:  M S Hale; H D Rodman; J Lipshin
Journal:  West J Med       Date:  1974-01

5.  Congenital contractural arachnodactyly: a syndrome simulating Marfan's syndrome.

Authors:  R B Lowry; V C Guichon
Journal:  Can Med Assoc J       Date:  1972-09-23       Impact factor: 8.262

Review 6.  The molecular genetics of Marfan syndrome and related disorders.

Authors:  P N Robinson; E Arteaga-Solis; C Baldock; G Collod-Béroud; P Booms; A De Paepe; H C Dietz; G Guo; P A Handford; D P Judge; C M Kielty; B Loeys; D M Milewicz; A Ney; F Ramirez; D P Reinhardt; K Tiedemann; P Whiteman; M Godfrey
Journal:  J Med Genet       Date:  2006-03-29       Impact factor: 6.318

7.  Arno G. Motulsky, MD (1923-2018): Holocaust survivor who cofounded the field of medical genetics.

Authors:  Gail P Jarvik
Journal:  Genet Med       Date:  2018-04       Impact factor: 8.822

8.  Whole exome sequencing identifies a novel missense FBN2 mutation co-segregating in a four-generation Chinese family with congenital contractural arachnodactyly.

Authors:  Xingping Guo; Chunying Song; Yaping Shi; Hongxia Li; Weijing Meng; Qinzhao Yuan; Jinjie Xue; Jun Xie; Yunxia Liang; Yanan Yuan; Baofeng Yu; Huaixiu Wang; Yun Chen; Lixin Qi; Xinmin Li
Journal:  BMC Med Genet       Date:  2016-12-03       Impact factor: 2.103

9.  A novel FBN2 mutation cosegregates with congenital contractural arachnodactyly in a five-generation Chinese family.

Authors:  Shiyuan Zhou; Fengyu Wang; Yongheng Dou; Jiping Zhou; Gefang Hao; Chengqi Xu; Qing K Wang; Haili Wang; Pengyun Wang
Journal:  Clin Case Rep       Date:  2018-07-03
  9 in total

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