Article
A novel de novo TP63 mutation in whole-exome sequencing of a Syrian family with Oral cleft and ectrodactyly.
Molecular genetics & genomic medicine - 1 Aug 2023
Simpson Claire L, Kimble Danielle C, Chandrasekharappa Settara C, Alqosayer Khalid, Holzinger Emily, Carrington Blake, McElderry John, Sood Raman, Al-Souqi Ghiath, Albacha-Hejazi Hasan, Bailey-Wilson Joan E
Abstract excerpt
BACKGROUND: Oral clefts and ectrodactyly are common, heterogeneous birth defects. We performed whole-exome sequencing (WES) analysis in a Syrian family. The proband presented with both orofacial clefting and ectrodactyly but not ectodermal dysplasia as typically seen in ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome-3. A paternal uncle with only an oral cleft was deceased and unavailable for...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.