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

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

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 can be caused by various genes, the...

Olles dieđut

Bibliográfalaš dieđut
Váldodahkkit: Ahmet Kablan, Elifcan Tasdelen
Materiálatiipa: Artihkal
Giella:English
Almmustuhtton: BMC 2024-06-01
Ráidu:Italian Journal of Pediatrics
Fáttát:
HED
EDARADD
Insertion
Novel variant
Case report
Liŋkkat:https://doi.org/10.1186/s13052-024-01681-2

Interneahtta

https://doi.org/10.1186/s13052-024-01681-2

Geahča maid