| 概要 |
Hardikar syndrome (HDKR) is a rare multiple congenital anomaly syndrome characterized by facial clefting, pigmentary retinopathy, biliary anomalies, and intestinal malrotation, but with preserved cognition. It has been reported that de novo loss-of-function mutations in MED12 are associated with this syndrome. MED12 is a member of the preinitiation complex (PIC), a large protein complex involved in transcription initiation.
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| 著者 |
Li D, Strong A, Shen KM, Cassiman D, Van Dyck M, Linhares ND, Valadares ER, Wang T, Pena SDJ, Jaeken J, Vergano S, Zackai E, Hing A, Chow P, Ganguly A, Scholz T, Bierhals T, Philipp D, Hakonarson H, Bhoj E |
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