Literature DB >> 20537066

GAPO syndrome: a report of two siblings and a review of literature.

Arti Nanda1, Wafa A Al-Ateeqi, Mona A Al-Khawari, Qasem A Alsaleh, Jeoram T Anim.   

Abstract

Growth retardation, alopecia, pseudoanodontia, optic atrophy (GAPO) syndrome is a rare autosomal recessive disorder. The molecular nature of the disease is not fully understood and is considered to be one of the ectodermal dysplasia defects. In this report, we describe clinical, histologic, and ultrastructural features in two siblings born to consanguineous parents with a brief review of the literature.

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Year:  2010        PMID: 20537066     DOI: 10.1111/j.1525-1470.2010.01100.x

Source DB:  PubMed          Journal:  Pediatr Dermatol        ISSN: 0736-8046            Impact factor:   1.588


  3 in total

1.  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

2.  Mutations in ANTXR1 cause GAPO syndrome.

Authors:  Viktor Stránecký; Alexander Hoischen; Hana Hartmannová; Maha S Zaki; Amit Chaudhary; Enrique Zudaire; Lenka Nosková; Veronika Barešová; Anna Přistoupilová; Kateřina Hodaňová; Jana Sovová; Helena Hůlková; Lenka Piherová; Jayne Y Hehir-Kwa; Deepthi de Silva; Manouri P Senanayake; Sameh Farrag; Jiří Zeman; Pavel Martásek; Alice Baxová; Hanan H Afifi; Brad St Croix; Han G Brunner; Samia Temtamy; Stanislav Kmoch
Journal:  Am J Hum Genet       Date:  2013-04-18       Impact factor: 11.025

3.  GAPO syndrome with pansutural craniosynostosis leading to intracranial hypertension.

Authors:  Nishant Goyal; Hitesh Gurjar; Bhawani Shankar Sharma; Manjari Tripathi; P Sarat Chandra
Journal:  BMJ Case Rep       Date:  2014-01-28
  3 in total

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