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Article

A splice site variant in TCTN3 underlies an atypical form of orofaciodigital syndrome IV.

Annals of human genetics - 1 Nov 2022

Hussain Shabir, Nawaz Shoaib, Khan Hammal, Acharya Anushree, Schrauwen Isabelle, Ahmad Wasim, Leal Suzanne M

Abstract excerpt

Orofaciodigital syndrome (OFD) is clinically heterogeneous and is characterized by abnormalities in the oral cavity, facial features, digits, and central nervous system. At least 18 subtypes of the condition have been described in the literature. OFD is caused by variants in several genes with overlapping phenotypes. We studied a consanguineous Pakistani family with two affected siblings with an atypical form of...

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PMID: 36039988
DOI: 10.1111/ahg.12462
PMCID: PMC9804382

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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