A Novel Loss-of-Function Variant in TGFBI Associated with Non-Syndromic Orofacial Clefts in a Chinese Pedigree

Abstract excerpt

Background/Objectives: Non-syndromic orofacial clefts (NSOFCs) are among the most common congenital craniofacial anomalies, with genetic factors playing a major role in their etiology. Transforming growth factor-β-induced (TGFBI) protein is an extracellular matrix protein implicated in cell adhesion and apoptosis. Although experimental studies have implicated TGFBI in palatal fusion, its contribution to human NSOF...

Topics

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• Cleft Lip and Palate Research
• Congenital Ear and Nasal Anomalies
• Ocular Disorders and Treatments

Identifiers and source

Literature Corpus work

d1c36e15-b63e-5085-b16f-7a1952c91a3d

DOI

10.3390/genes17090999