Literature DB >> 11152147

A family with distal arthrogryposis and cleft palate: possible overlap between Gordon syndrome and Aase-Smith syndrome.

K Becker1, M Splitt.   

Abstract

We report a family with distal arthrogryposis and cleft palate which demonstrates the clinical overlap between Gordon syndrome and Aase-Smith syndrome. The two syndromes may represent a single clinical entity.

Entities:  

Mesh：

Year:  2001        PMID： 11152147     DOI： 10.1097/00019605-200101000-00009

Source DB:  PubMed          Journal:  Clin Dysmorphol        ISSN： 0962-8827            Impact factor:   0.816


  1 in total

1.  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
  1 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.