Literature DB >> 9298746

GAPO syndrome: first Egyptian case with ultrastructural changes in the gingiva.

N A Meguid1, H H Afifi, M I Ramzy, A Hindawy, S A Temtamy.   

Abstract

We report on a 3-year-old boy with growth retardation, alopecia, pseudoanodontia, and optic atrophy. This is the 18th known and the first Egyptian case of GAPO syndrome. Electron microscopic examination of gingival biopsy showed excessive collagen fibres and endothelial vacuolisation, suggesting involvement of extracellular pathological collagenosis.

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Year:  1997        PMID： 9298746     DOI： 10.1111/j.1399-0004.1997.tb02527.x

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


  4 in total

1.  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

2.  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

Review 3.  Converging physiological roles of the anthrax toxin receptors.

Authors:  Oksana A Sergeeva; F Gisou van der Goot
Journal:  F1000Res       Date:  2019-08-12

4.  Hypotony Maculopathy After Trabeculectomy in a Patient With GAPO Syndrome.

Authors:  Selim Genc; Emre Guler; Hanefi Cakir; Osman Salkaci; Fehim Esen
Journal:  Beyoglu Eye J       Date:  2019-04-08
  4 in total

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