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Article

A novel Xp22.11 deletion causing a syndrome of craniosynostosis and periventricular nodular heterotopia.

American journal of medical genetics. Part A - 1 Dec 2011

van Kogelenberg Margriet, Lerone Margherita, De Toni Teresa, Divizia Maria T, de Brouwer Arjan P M, Veltman Joris A, van Bokhoven Hans, Robertson Stephen P

Abstract excerpt

We report on a follow-up evaluation of a male with a phenotype including craniosynostosis, periventricular nodular heterotopia, and neurodevelopmental delay. He was initially assigned a clinical diagnosis of Fontaine-Farriaux syndrome (FFS) as an infant although now, with improved delineation of this entity, it is evident that this diagnosis is not applicable to this individual. Array comparative genomic...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 22052819
DOI: 10.1002/ajmg.a.34311

Genes

PDK3
ZFX

Provenance

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