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

doi:10.1111/ahg.12462

Back to search

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 ov...

Topics

Humans
Orofaciodigital Syndromes
Ciliopathies
Mutation
Homozygote
Pedigree

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

discussions

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.