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Article

Hydrocephalus and moderate mental retardation in a boy with Van der Woude phenotype and IRF6 gene mutation.

Clinical dysmorphology - 1 Jul 2007

Zechi-Ceide Roseli Maria, Guion-Almeida Maria Leine, de Oliveira Rodini Elaine Sbroggio, Jesus Oliveira Nélio Alessandro, Passos-Bueno Maria Rita

Abstract excerpt

In this report, we present a boy with lower lip pits, distinct craniofacial dysmorphism with cleft lip and palate, central nervous system malformation, and severe mental retardation. Similar but less pronounced facial findings were present in his mentally normal mother and maternal grandfather, both presenting with lower lip pits. Cleft lip was present in patient's father. Analysis of the VWS1 and VWS2 regions...

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PMID: 17551329
DOI: 10.1097/MCD.0b013e3280739753

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Hydrocephalus and moderate mental retardation in a boy with Van der Woude phenotype and IRF6 gene mutation.PMID 17551329Read ↗

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Genome-wide copy number scan identifies IRF6 involvement in Van der Woude syndrome in an Indian family.Semantic proximity Read ↗

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