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Mutation in WNT10A Is Associated with an Autosomal Recessive Ectodermal Dysplasia: The Odonto-onycho-dermal Dysplasia

Odonto-onycho-dermal dysplasia is a rare autosomal recessive syndrome in which the presenting phenotype is dry hair, severe hypodontia, smooth tongue with marked reduction of fungiform and filiform papillae, onychodysplasia, keratoderma and hyperhidrosis of palms and soles, and hyperkeratosis of the...

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Hlavní autoři: Adaimy, Lynn , Chouery, Eliane , Mégarbané, Hala , Mroueh, Salman , Delague, Valérie , Nicolas, Elsa , Belguith, Hanen , de Mazancourt, Philippe , Mégarbané, André 
Médium: Artigo
Jazyk:Inglês
Vydáno: American Society of Human Genetics 2007
Témata:
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC1973944/
https://ncbi.nlm.nih.gov/pubmed/17847007
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