TY  - GEN
AU  - Feberwee,H E
AU  - Feenstra,I
AU  - Oberoi,S
AU  - Sama,I E
AU  - Ockeloen,C W
AU  - Clum,F
AU  - Slavotinek,A
AU  - Kuijpers,M A R
AU  - Dooijes,D
AU  - Kuijpers-Jagtman,A M
AU  - Kleefstra,T
AU  - Carels,C E L
TI  - Novel BCOR mutations in patients with oculofaciocardiodental (OFCD) syndrome
SN  - 1399-0004
PY  - 2015///0330
KW  - Cataract
KW  - congenital
KW  - Codon, Nonsense
KW  - genetics
KW  - Female
KW  - Heart Septal Defects
KW  - Humans
KW  - Infant
KW  - Microphthalmos
KW  - Mutation, Missense
KW  - Proto-Oncogene Proteins
KW  - Repressor Proteins
KW  - Young Adult
N1  - Publication Type: Case Reports; Letter
UR  - https://doi.org/10.1111/cge.12125
ER  -