Genetic Analysis and Functional Assessment of aTGFBR2Variant in Micrognathia and Cleft Palate
JES-Rite Michaels,
Ammar Husami,
Andrew M. Vontell
et al.
Abstract: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 variant intransforming growth factor beta receptor 2(TGFBR2) which is rare, changing a highly conserved … Show more
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