Molecular genetic analysis of consanguineous Pakistani families with autosomal recessive hypohidrotic ectodermal dysplasia

2010 ◽  
Vol 52 (1) ◽  
pp. 37-42 ◽  
Author(s):  
Nosheen Bibi ◽  
Saeed Ahmad ◽  
Wasim Ahmad ◽  
Muhammad Naeem
Keyword(s):  
Genetic Analysis ◽  
Autosomal Recessive ◽  
Ectodermal Dysplasia ◽  
Molecular Genetic ◽  
Molecular Genetic Analysis ◽  
Hypohidrotic Ectodermal Dysplasia ◽  
Pakistani Families

Molecular Genetic Analysis of Two Functional Candidate Genes in the Autosomal Recessive Retinitis Pigmentosa, RP25, Locus

2005 ◽  
Vol 30 (12) ◽  
pp. 1081-1087 ◽  
Author(s):  
Mai M. Abd El-Aziz ◽  
Mohamed F. El-Ashry ◽  
Isabel Barragan ◽  
Irene Marcos ◽  
Salud Borrego ◽  
...  
Keyword(s):  
Genetic Analysis ◽  
Retinitis Pigmentosa ◽  
Candidate Genes ◽  
Autosomal Recessive ◽  
Molecular Genetic ◽  
Molecular Genetic Analysis

Autosomal recessive hypercholesterolaemia in Sardinia, Italy, and mutations in ARH: a clinical and molecular genetic analysis

The Lancet ◽  
2002 ◽  
Vol 359 (9309) ◽  
pp. 841-847 ◽  
Author(s):  
Marcello Arca ◽  
Giovanni Zuliani ◽  
Kenneth Wilund ◽  
Filomena Campagna ◽  
Renato Fellin ◽  
...  
Keyword(s):  
Genetic Analysis ◽  
Autosomal Recessive ◽  
Molecular Genetic ◽  
Molecular Genetic Analysis

scholarly journals Clouston Syndrome: First Case in Russia

2012 ◽  
Vol 15 (1) ◽  
pp. 51-54 ◽  
Author(s):  
A Marakhonov ◽  
M Skoblov ◽  
V Galkina ◽  
R Zinchenko
Keyword(s):  
Genetic Analysis ◽  
Autosomal Dominant ◽  
Ectodermal Dysplasia ◽  
Genetic Disorder ◽  
Molecular Genetic ◽  
Molecular Genetic Analysis ◽  
Nail Dystrophy ◽  
First Case ◽  
Palmoplantar Hyperkeratosis

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.

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