Intra-familial Variability of Ectodermal Defects Associated with WNT10A Mutations
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چکیده
منابع مشابه
Intra-familial variability of ectodermal defects associated with WNT10A mutations.
© 2011 The Authors. doi: 10.2340/00015555-1028 Journal Compilation © 2011 Acta Dermato-Venereologica. ISSN 0001-5555 WNT10A is a member of the wingless signalling pathway that has a fundamental role in skin and appendageal morphogenesis (1). Moreover, naturally occurring WNT10A gene mutations have been identified in the autosomal recessive human ectodermal dysplasia syndromes odonto-onycho-derm...
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Hypohidrotic ectodermal dysplasia (HED) is characterized by abnormal development of the teeth, hair, and sweat glands. Ectodysplasin A (EDA), Ectodysplasin A receptor (EDAR), and EDAR-associated death domain (EDARADD) are candidate genes for HED, but the relationship between WNT10A and HED has not yet been validated. In this study, we included patients who presented at least two of the three ec...
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Mutations in the WNT10A gene were first detected in the rare syndrome odonto-onycho-dermal dysplasia (OODD, OMIM257980) but have now also been found to cause about 35-50% of selective tooth agenesis (STHAG4, OMIM150400), a common disorder that mostly affects the permanent dentition. In our random sample of tooth agenesis patients, 40% had at least one mutation in the WNT10A gene. The WNT10A Phe...
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ژورنال
عنوان ژورنال: Acta Dermato Venereologica
سال: 2011
ISSN: 0001-5555
DOI: 10.2340/00015555-1028