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Article

CNS involvement in OFD1 syndrome: a clinical, molecular, and neuroimaging study.

Orphanet journal of rare diseases - 10 May 2014

Del Giudice Ennio, Macca Marina, Imperati Floriana, D'Amico Alessandra, Parent Philippe, Pasquier Laurent, Layet Valerie, Lyonnet Stanislas, Stamboul-Darmency Veronique, Thauvin-Robinet Christel, Franco Brunella

Abstract excerpt

BACKGROUND: Oral-facial-digital type 1 syndrome (OFD1; OMIM 311200) belongs to the expanding group of disorders ascribed to ciliary dysfunction. With the aim of contributing to the understanding of the role of primary cilia in the central nervous system (CNS), we performed a thorough characterization of CNS involvement observed in this disorder. METHODS: A cohort of 117 molecularly diagnosed OFD type I patients...

Topics

Central Nervous System Diseases
Cohort Studies
Female
Humans
Magnetic Resonance Imaging
Mutation
Neuropsychological Tests
Orofaciodigital Syndromes

Source

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 24884629
DOI: 10.1186/1750-1172-9-74
PMCID: PMC4113190

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-24884629-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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