Novel homozygous frameshift insertion variant in the last exon of the EDARADD causing hypohidrotic ectodermal dysplasia in two siblings: case report and review of the literature
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DOI: 10.1186/s13052-024-01681-2
Abstract: Background Hypohidrotic ectodermal dysplasia (HED) is a genetic disorder that results in the abnormal development of structures derived from ectodermal tissue. This rare condition predominantly affects the hair, nails, eccrine glands, and teeth. While HED… read more here.
Keywords: ectodermal dysplasia; insertion variant; hypohidrotic ectodermal; edaradd ... See more keywords