Literature DB >> 4028502

The facio-audio-symphalangism syndrome: report of a case and review of the literature.

S A Hurvitz, R M Goodman, M Hertz, M B Katznelson, Y Sack.   

Abstract

A detailed account is given of a 5-year-old girl with the facio-audio-symphalangism syndrome. This genetic disorder has been known previously by other names, including the WL syndrome. The reasons for suggesting this new descriptive term are given, along with a review of the literature.

Entities:  

Mesh：

Year:  1985        PMID： 4028502     DOI： 10.1111/j.1399-0004.1985.tb01219.x

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


  3 in total

1.  Identification of two novel mutations in the NOG gene associated with congenital stapes ankylosis and symphalangism.

Authors:  Akira Ganaha; Tadashi Kaname; Yukinori Akazawa; Teruyuki Higa; Ayano Shinjou; Kenji Naritomi; Mikio Suzuki
Journal:  J Hum Genet       Date:  2014-11-13       Impact factor: 3.172

2.  Multiple synostoses syndrome is due to a missense mutation in exon 2 of FGF9 gene.

Authors:  Xiao-Lin Wu; Ming-Min Gu; Lei Huang; Xue-Song Liu; Hong-Xin Zhang; Xiao-Yi Ding; Jian-Qiang Xu; Bin Cui; Long Wang; Shun-Yuan Lu; Xiao-Yi Chen; Hai-Guo Zhang; Wei Huang; Wen-Tao Yuan; Jiang-Ming Yang; Qun Gu; Jian Fei; Zhu Chen; Zhi-Min Yuan; Zhu-Gang Wang
Journal:  Am J Hum Genet       Date:  2009-07       Impact factor: 11.025

3.  Localization of a multiple synostoses-syndrome disease gene to chromosome 17q21-22.

Authors:  D Krakow; K Reinker; B Powell; R Cantor; M A Priore; A Garber; R S Lachman; D L Rimoin; D H Cohn
Journal:  Am J Hum Genet       Date:  1998-07       Impact factor: 11.025
  3 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.