Kategorie:
PubID
Gen
MIM
ASXL1
ATRX
BLM
CCDC8
22634751 Mutations in the PCNA-binding domain of CDKN1C cause IMAGe syndrome.
CDKN1C
CHD7
CREBBP
CUL7
DHCR7
EP300
ERCC6
ERCC8
FAM111A
FGD1
FGFR3
HDAC8
IARS
KDM6A
KMT2D
KRAS
LIG4
LMNA
NBN
NIPBL
NSUN2
OBSL1
PIK3R1
POC1A
PTPN11
RAD21
RAF1
ROR2
RPS6KA3
SEMA3E
SMARCAL1
SMC1A
SMC3
SOS1
SRCAP
TBCE
TBX22
THRB
TRIM37
WRN