Clouston Syndrome: First Case in Russia-Reference-Cited by-同舟云学术

Clouston Syndrome: First Case in Russia

Published:2012-01-01 Issue:1 Volume:15 Page:51-54
ISSN:1311-0160
Container-title:Balkan Journal of Medical Genetics
language:
Short-container-title:

Author:

Marakhonov A¹,Skoblov M¹,Galkina V¹,Zinchenko R¹

Affiliation:

1. Laboratory of Genetic Epidemiology, Federal State Budgetary Institution "Research Centre for Medical Genetics" under the Russian Academy of Medical Sciences, Moscow, Russian Federation1

Abstract

Clouston Syndrome: First Case in RussiaHidrotic ectodermal dysplasia type 2 (HED2) or Clouston syndrome (OMIM #129500) is a rare autosomal dominant genetic disorder which affects skin and its derivatives, characterized by the major triad of features: nail dystrophy, generalized hypotrichosis, and palmoplantar hyperkeratosis. Here we describe the first case of Clouston syndrome in Russia and the molecular genetic analysis of this case.

Publisher

Walter de Gruyter GmbH

Subject

Genetics(clinical),Genetics

Link

https://content.sciendo.com/downloadpdf/journals/bjmg/15/1/article-p51.xml

Reference9 articles.

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3. Mutations in GJB6 cause nonsyndromic autosomal dominant deafness at DFNA3 locus;A. Grifa;Nat Genet,1999

4. Genetic heterogeneity of KID syndrome: identification of a Cx30 gene (GJB6) mutation in a patient with KID syndrome and congenital atrichia;A. Jan;J Invest Dermatol,2004

5. A novel GJB6 missense mutation in hidrotic ectodermal dysplasia 2 (Clouston syndrome) broadens its genotypic basis;H. Baris;Br J Dermatol,2008

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1. Hidrotic ectodermal dysplasia in a Chinese pedigree: A case report;World Journal of Clinical Cases;2023-02-26

2. A novel variant in the GJB6 gene in a large Chinese family with a unique phenotype of Clouston syndrome;Frontiers of Medicine;2023-01-16

3. Alopecia, nail dystrophy, and palmoplantar keratoderma in a 7‐year‐old girl;Pediatric Dermatology;2021-09

4. Long-Term Follow-Up of Dental Rehabilitation of a Patient with Clouston Syndrome and Congenital Edentulism (Issues of Theory and Clinical Practice);Medical University;2020-12-01

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