A case study of a novel homozygous EDAR splice site variant in hypohidrotic ectodermal dysplasia with tooth agenesis: molecular dynamics insights

Abstract Hypohidrotic ectodermal dysplasia (HED) is a genetic disorder that can caused by mutations in the EDAR gene, which encodes the Ectodysplasin A receptor, leading to defective ectodermal structure development. This study investigates the molecular impact of a novel homozygous c.730 + 1G > T s...

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Hauptverfasser:	Parham Nejati, Teymoor Khosravi, Saba Lorestani, Morteza Oladnabi
Format:	Artigo
Sprache:	Inglês
Veröffentlicht:	BMC 2025-12-01
Schriftenreihe:	BMC Medical Genomics
Schlagworte:	Hypohidrotic ectodermal dysplasia EDAR receptor Exome sequencing Molecular dynamics simulation Alternative splicing
Online-Zugang:	https://doi.org/10.1186/s12920-025-02300-7
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