Article

A Novel <i>de novo TP63</i> Mutation in Whole Exome Sequencing of a Syrian Family with Oral Cleft and Ectrodactyly

2022-02-15

Abstract excerpt

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. A paternal side second-degree relative with only an oral cleft was deceased and unavailable for analysis. Variant annotation, Mendelian inconsistencies, and novel variants in known cleft genes were examined....

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Literature Corpus work: 536ce22d-ad45-5dc5-a169-ba7922708ca9
DOI: 10.1101/2022.02.10.21265142

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