Literature DB >> 8370149

Distal arthrogryposis with autosomal dominant inheritance and reduced penetrance in females: the Gordon syndrome.

D M Ioan1, V Belengeanu, C Maximilian, J P Fryns.   

Abstract

A family is reported in which camptodactyly, club foot, pectus excavatum and undescended testes are transmitted as an autosomal dominant with reduced penetrance and variable expressivity, affecting 13 members through five generations. Penetrance is more reduced in females than in males and asymptomatic carriers are always females. Similar findings were previously described in two other families reported by Gordon et al. (1962) and Halal & Fraser (1979).

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Year:  1993        PMID: 8370149     DOI: 10.1111/j.1399-0004.1993.tb03822.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN: 0009-9163            Impact factor:   4.438


  2 in total

1.  A gene for distal arthrogryposis type I maps to the pericentromeric region of chromosome 9.

Authors:  M Bamshad; W S Watkins; R K Zenger; J F Bohnsack; J C Carey; B Otterud; P A Krakowiak; M Robertson; L B Jorde
Journal:  Am J Hum Genet       Date:  1994-12       Impact factor: 11.025

2.  Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5.

Authors:  Margaret J McMillin; Anita E Beck; Jessica X Chong; Kathryn M Shively; Kati J Buckingham; Heidi I S Gildersleeve; Mariana I Aracena; Arthur S Aylsworth; Pierre Bitoun; John C Carey; Carol L Clericuzio; Yanick J Crow; Cynthia J Curry; Koenraad Devriendt; David B Everman; Alan Fryer; Kate Gibson; Maria Luisa Giovannucci Uzielli; John M Graham; Judith G Hall; Jacqueline T Hecht; Randall A Heidenreich; Jane A Hurst; Sarosh Irani; Ingrid P C Krapels; Jules G Leroy; David Mowat; Gordon T Plant; Stephen P Robertson; Elizabeth K Schorry; Richard H Scott; Laurie H Seaver; Elliott Sherr; Miranda Splitt; Helen Stewart; Constance Stumpel; Sehime G Temel; David D Weaver; Margo Whiteford; Marc S Williams; Holly K Tabor; Joshua D Smith; Jay Shendure; Deborah A Nickerson; Michael J Bamshad
Journal:  Am J Hum Genet       Date:  2014-04-10       Impact factor: 11.025

  2 in total

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