Literature DB >> 6507472

GAPO syndrome: report of three affected brothers.

A R Gagliardi, C H González, R Pratesi.   

Abstract

We present a sibship of three brothers affected with the GAPO syndrome. This is a rare and very characteristic autosomal-recessive trait whose main manifestations are growth retardation, alopecia, pseudo anodontia, and optic atrophy. So far nine affected individuals are known (4 males and 5 females). Two of them, the patient of Andersen and Pindborg cited in Tipton and Gorlin [1983] and one of the cases of Wajntal et al [1982], died at 39 and 37 years respectively.

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Year:  1984        PMID: 6507472     DOI: 10.1002/ajmg.1320190203

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN: 0148-7299


  4 in total

1.  A gene for X-linked optic atrophy is closely linked to the Xp11.4-Xp11.2 region of the X chromosome.

Authors:  J J Assink; N T Tijmes; J B ten Brink; R J Oostra; F C Riemslag; P T de Jong; A A Bergen
Journal:  Am J Hum Genet       Date:  1997-10       Impact factor: 11.025

2.  New ANTXR1 Gene Mutation for GAPO Syndrome: A Case Report.

Authors:  Julio C Salas-Alanís; Claire A Scott; Oscar R Fajardo-Ramírez; Carola Duran; María G Moreno-Treviño; David P Kelsell
Journal:  Mol Syndromol       Date:  2016-06-02

3.  Whole exome sequencing identifies three novel mutations in ANTXR1 in families with GAPO syndrome.

Authors:  Yavuz Bayram; Davut Pehlivan; Ender Karaca; Tomasz Gambin; Shalini N Jhangiani; Serkan Erdin; Claudia Gonzaga-Jauregui; Wojciech Wiszniewski; Donna Muzny; Nursel H Elcioglu; M Selman Yildirim; Banu Bozkurt; Ayse Gul Zamani; Eric Boerwinkle; Richard A Gibbs; James R Lupski
Journal:  Am J Med Genet A       Date:  2014-07-14       Impact factor: 2.802

4.  Dental approach to craniofacial syndromes: how can developmental fields show us a new way to understand pathogenesis?

Authors:  Inger Kjær
Journal:  Int J Dent       Date:  2012-10-02
  4 in total

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