3M syndrome, NGS


Genetic diagnosis of 3M syndrome; guide clinical care and familial counselling.
Gene list (24): ATR, BCS1L, CCDC8, CDC45, CDC6, CDT1, CENPJ, CEP152, CEP63, CUL7, LARP7, NOTCH2, OBSL1, ORC1, ORC4, ORC6, PCNT, POC1A, RBBP8, RNU4ATAC, RTTN, SRCAP, TRIM37, XRCC4