Detailed clinical, genetic and neuroimaging characterization of OFD VI syndrome.

doi:10.1016/j.ejmg.2013.03.004

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Article

Detailed clinical, genetic and neuroimaging characterization of OFD VI syndrome.

European journal of medical genetics - 1 Jun 2013

Darmency-Stamboul Véronique, Burglen Lydie, Lopez Estelle, Mejean Nathalie, Dean John, Franco Brunella, Rodriguez Diana, Lacombe Didier, Desguerres Isabelle, Cormier-Daire Valérie, Doray Bérénice, Pasquier Laurent, Gonzales Marie, Pastore Matthew, Crenshaw Melissa L, Huet Frédéric, Gigot Nadège, Aral Bernard, Callier Patrick, Faivre Laurence, Attié-Bitach Tania, Thauvin-Robinet Christel

Abstract excerpt

Oral-facial-digital syndrome type VI (OFD VI) is characterized by the association of malformations of the face, oral cavity and extremities, distinguished from the 12 other OFD syndromes by cerebellar and metacarpal abnormalities. Cerebellar malformations in OFD VI have been described as a molar...

Topics

Brain
Child
Child, Preschool
Female
Humans
Infant
Magnetic Resonance Imaging
Mutation
Neuroimaging
Orofaciodigital Syndromes

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Proteins

Tomography, X-Ray Computed

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Open in PubMed

Identifiers

PMID: 23523602
DOI: 10.1016/j.ejmg.2013.03.004

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-23523602-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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