Article

Novel Ectodysplasin-A Variants: Structural and Functional Basis of Hypohidrotic Ectodermal Dysplasia

2025-01-03

Abstract excerpt

<title>Abstract</title> <p>This study investigates two novel variants in the <italic>EDA</italic>, c.680G > A (p.G227E) and c.649_666del (Δ215–220), identified in X-linked ectodermal dysplasia and syndromic tooth agenesis cases. These variants were identified through Sanger sequencing and mapped to highly conserved regions of EDA. Bioinformatics tools consistently classified them as deleterious, with significant...

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Literature Corpus work: a0f9a527-7588-5290-a405-0b8156493207
DOI: 10.21203/rs.3.rs-5743160/v1

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