Article

Genetic Analysis and Functional Assessment of a <i>TGFBR2</i> Variant in Micrognathia and Cleft Palate

2024-04-11

Abstract excerpt

Cleft lip and cleft palate are among the most common congenital anomalies and are the result of incomplete fusion of embryonic craniofacial processes or palatal shelves, respectively. We know that genetics play a large role in these anomalies but the list of known causal genes is far from complete. As part of a larger sequencing effort of patients with micrognathia and cleft palate we identified a candidate varian...

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Literature Corpus work: dea95cf0-5b49-50af-a465-d4756709b421
DOI: 10.1101/2024.04.08.588524

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