TY  - GEN
AU  - Risheg,Hiba
AU  - Graham,John M
AU  - Clark,Robin D
AU  - Rogers,R Curtis
AU  - Opitz,John M
AU  - Moeschler,John B
AU  - Peiffer,Andreas P
AU  - May,Melanie
AU  - Joseph,Sumy M
AU  - Jones,Julie R
AU  - Stevenson,Roger E
AU  - Schwartz,Charles E
AU  - Friez,Michael J
TI  - A recurrent mutation in MED12 leading to R961W causes Opitz-Kaveggia syndrome
SN  - 1061-4036
PY  - 2007///0606
KW  - Amino Acid Substitution
KW  - genetics
KW  - Arginine
KW  - Family
KW  - Female
KW  - Genetic Diseases, X-Linked
KW  - Humans
KW  - Intellectual Disability
KW  - Male
KW  - Mediator Complex
KW  - Muscle Hypotonia
KW  - Mutation
KW  - Pedigree
KW  - Receptors, Thyroid Hormone
KW  - Syndrome
KW  - Tryptophan
N1  - Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1038/ng1992
ER  -