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Article

Oral-facial-digital syndrome type 1 in males: Congenital heart defects are included in its phenotypic spectrum.

American journal of medical genetics. Part A - 1 May 2017

Bouman Arjan, Alders Mariëlle, Oostra Roelof Jan, van Leeuwen Elisabeth, Thuijs Nikki, van der Kevie-Kersemaekers Anne-Marie, van Maarle Merel

Abstract excerpt

Oral-facial-digital syndrome type 1 (OFD1; OMIM# 311200) is an X-linked dominant ciliopathy caused by mutations in the OFD1 gene. This condition is characterized by facial anomalies and abnormalities of oral tissues, digits, brain, and kidneys. Almost all affected patients are female, as OFD1 is...

Topics

Aborted Fetus
Autopsy
Female
Genes, X-Linked
Heart Defects, Congenital
Humans
Male
Mutation
Orofaciodigital Syndromes
Pedigree
Phenotype
Pregnancy

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Proteins

Signal Transduction

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Open in PubMed Open full text

Identifiers

PMID: 28371265
DOI: 10.1002/ajmg.a.38179
PMCID: PMC5413846

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-28371265-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

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

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