Article

Rare variants in PRKCI cause Van der Woude syndrome and other features of peridermopathy

2025-01-17

Abstract excerpt

Van der Woude syndrome (VWS) is an autosomal dominant disorder characterized by lower lip pits and orofacial clefts (OFCs). With a prevalence of approximately 1 in 35,000 live births, it is the most common form of syndromic clefting and may account for ~2% of all OFCs. The majority of VWS is attributed to genetic variants in IRF6 (~70%) or GRHL3 (~5%), leaving up to 25% of individuals with VWS without a molecular...

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Literature Corpus work: e4e9e1c1-44ec-5941-8bea-57599870259a
DOI: 10.1101/2025.01.17.25320742

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Rare variants in PRKCI cause Van der Woude syndrome and other features of peridermopathyDOI 10.1101/2025.01.17.25320742Read

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