Literature DB >> 9450885

New form of hidrotic ectodermal dysplasia in a Lebanese family.

A Mégarbané1, Z Noujeim, M Fabre, V M Der Kaloustian.   

Abstract

We report a sister and brother born to consanguineous parents presenting with severe hypodontia, fine hair, and onychodysplasia. Five other relatives are similarly affected. The comparison with other ectodermal dysplasias is presented and discussed. The possibility of a new autosomal recessive form of ectodermal dysplasia is raised.

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Year:  1998        PMID： 9450885

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


  4 in total

1.  WNT10A missense mutation associated with a complete odonto-onycho-dermal dysplasia syndrome.

Authors:  Sadia Nawaz; Joakim Klar; Muhammad Wajid; Muhammad Aslam; Muhammad Tariq; Jens Schuster; Shahid Mahmood Baig; Niklas Dahl
Journal:  Eur J Hum Genet       Date:  2009-05-27       Impact factor: 4.246

2.  WNT10A mutations are a frequent cause of a broad spectrum of ectodermal dysplasias with sex-biased manifestation pattern in heterozygotes.

Authors:  Axel Bohring; Thomas Stamm; Christiane Spaich; Claudia Haase; Kerstin Spree; Ute Hehr; Mandy Hoffmann; Susanne Ledig; Saadettin Sel; Peter Wieacker; Albrecht Röpke
Journal:  Am J Hum Genet       Date:  2009-06-25       Impact factor: 11.025

3.  Mutation in WNT10A is associated with an autosomal recessive ectodermal dysplasia: the odonto-onycho-dermal dysplasia.

Authors:  Lynn Adaimy; Eliane Chouery; Hala Megarbane; Salman Mroueh; Valerie Delague; Elsa Nicolas; Hanen Belguith; Philippe de Mazancourt; Andre Megarbane
Journal:  Am J Hum Genet       Date:  2007-08-09       Impact factor: 11.025

4.  Impacted Lower Second Permanent Molars at the Ramus and Coronoid Process: A New Clinical Symptom of the WNT10A Mutation in Ectodermal Dysplasia.

Authors:  Elia Sfeir; Samia Aboujaoude
Journal:  Int J Clin Pediatr Dent       Date:  2017-02-27
  4 in total

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