Literature DB >> 6837628

Odontoonychodermal dysplasia: a previously apparently undescribed ectodermal dysplasia.

M Fadhil, T A Ghabra, M Deeb, V M Der Kaloustian.   

Abstract

Seven affected individuals in a total of 24 belonging to three inbred Lebanese sibships are presented as having a previously apparently undescribed pure ectodermal dysplasia. For this condition, probably owing to the homozygous state of an autosomal recessive gene, we suggest the name trichoodontodermal dysplasia.

Entities:  

Mesh：

Year:  1983        PMID： 6837628     DOI： 10.1002/ajmg.1320140213

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


  7 in total

Review 1.  Concepts for the treatment of adolescent patients with missing permanent teeth.

Authors:  M Behr; O Driemel; V Mertins; T Gerlach; C Kolbeck; N Rohr; T E Reichert; G Handel
Journal:  Oral Maxillofac Surg       Date:  2008-07

2.  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

3.  The WNT10A gene in ectodermal dysplasias and selective tooth agenesis.

Authors:  Gabriele Mues; John Bonds; Lilin Xiang; Alexandre R Vieira; Figen Seymen; Ophir Klein; Rena N D'Souza
Journal:  Am J Med Genet A       Date:  2014-04-03       Impact factor: 2.802

4.  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

5.  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

6.  Odonto-onycho-dermal dysplasia in a patient homozygous for a WNT10A nonsense mutation and mild manifestations of ectodermal dysplasia in carriers of the mutation.

Authors:  Anne Bruun Krøigård; Ole Clemmensen; Hans Gjørup; Jens Michael Hertz; Anette Bygum
Journal:  BMC Dermatol       Date:  2016-03-10

Review 7.  Diagnosis and Management of Inherited Palmoplantar Keratodermas.

Authors:  Bjorn R Thomas; Edel A O'Toole
Journal:  Acta Derm Venereol       Date:  2020-03-25       Impact factor: 3.875
  7 in total

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