Developmental BiologyPLoS ONEPeer-reviewed
Genetic Analysis and Functional Assessment of a TGFBR2 Variant in Micrognathia and Cleft Palate
JES-Rite Michaels, Paul P. R. Iyyanar, Ammar Husami…·Rolf W. Stottmann
The paper identifies a TGFBR2 variant in patients with micrognathia and cleft palate, tests its causality in mice, and finds it does not cause craniofacial anomalies, highlighting challenges in translating genetic findings to models.
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