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Article

Oral-Facial-Digital Syndrome Type 1: Further Clinical and Molecular Delineation in 2 New Families.

The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association - 1 May 2020

Faily Sara, Perveen Rahat, Chandler Kate, Clayton-Smith Jill

Abstract excerpt

OBJECTIVE: Oral-facial-digital syndrome type 1 (OFD1) [OMIM 311200] is a rare genetic disorder associated with congenital anomalies of the oral cavity, face, and digits. This condition is associated with mutations in the OFD1 gene. Our objective was to recruit patients with the OFD1 clinical phenotype without genetic confirmation, aiming to identify genetic variants in the OFD1 gene. DESIGN: Three patients from 2...

Topics

Comparative Genomic Hybridization
Family
Humans
Mutation
Orofaciodigital Syndromes
Pedigree
Proteins

Source

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 32064904
DOI: 10.1177/1055665620902880

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-32064904-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

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