Homozygous variants of EDAR underlying hypohidrotic ectodermal dysplasia in three consanguineous families
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DOI: 10.1684/ejd.2020.3844
Abstract: Hypohidrotic ectodermal dysplasia (HED) is a congenital anomaly characterized by hypohydrosis, hypotrichosis and hypodontia. Mutations in at least four genes (EDAR, EDARADD, WNT10A, TRAF6) have been reported to cause both autosomal recessive and autosomal dominant… read more here.
Keywords: three consanguineous; family; consanguineous families; edar ... See more keywords