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Article

The molecular basis of oral-facial-digital syndrome, type 1.

American journal of medical genetics. Part C, Seminars in medical genetics - 15 Nov 2009

Macca Marina, Franco Brunella

Abstract excerpt

Oral-facial-digital syndrome type 1 (OFDI; OFD1; OMIM 311200) is a rare developmental disorder transmitted as an X-linked dominant condition with embryonic male lethality. OFD1 is characterized by malformation of the oral cavity, face, and digits. Central nervous system (CNS) abnormalities and cystic kidney disease can also be part of this condition. This disorder is due to mutations in the OFD1 gene that encodes...

Topics

Animals
Centrosome
Chromosomes, Human, X
Cilia
Ciliary Motility Disorders
Disease Models, Animal
Exons
Genes, X-Linked
Humans
Introns
Male
Mutation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Orofaciodigital Syndromes

Phenotype

Proteins

Signal Transduction

Source

Identifiers

PMID: 19876934
DOI: 10.1002/ajmg.c.30224

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-19876934-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

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