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Article

Expanding the genetic landscape of oral-facial-digital syndrome with two novel genes.

American journal of medical genetics. Part A - 1 Aug 2021

Strong Alanna, Simone Laurie, Krentz Anthony, Vaccaro Courtney, Watson Deborah, Ron Hayley, Kalish Jennifer M, Pedro Helio F, Zackai Elaine H, Hakonarson Hakon

Abstract excerpt

Oral-facial-digital syndromes (OFDS) are a heterogeneous and rare group of Mendelian disorders characterized by developmental abnormalities of the oral cavity, face, and digits caused by dysfunction of the primary cilium, a mechanosensory organelle that exists atop most cell types that facilitates organ patterning and growth. OFDS is inherited both in an X-linked dominant, X-linked recessive, and autosomal...

Topics

Alleles
Female
Genetic Association Studies
Genetic Predisposition to Disease
Genetic Testing
Genetic Variation
Genotype
Humans
Infant
Infant, Newborn

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Magnetic Resonance Imaging

Male

Mutation

Neoplasm Proteins

Nuclear Proteins

Orofaciodigital Syndromes

Phenotype

Ubiquitin-Protein Ligases

Source

Open in PubMed Open full text

Identifiers

PMID: 34132027
DOI: 10.1002/ajmg.a.62337
PMCID: PMC8361718

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-34132027-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

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