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Article

[Van-der-Woude Syndrome].

Klinische Padiatrie - 1 Jan 2000

Del Frari B, Amort M, Janecke A R, Schutte B C, Piza-Katzer H

Abstract excerpt

We report on two families with different expression of a Van-der-Woude-Syndrome (VWS) and with proven mutation of the IRF6- gene. The Van-der-Woude syndrome is a rare disease, typically consisting of congenital pits of the lower lip in combination with cleft lip or cleft palate or both. The Van-der-Woude syndrome is an autosomal dominant syndrome with variable expression. The penetrance is between 0,89 and 0,99....

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Identifiers

PMID: 18095255
DOI: 10.1055/s-2007-971049

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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