TY  - GEN
AU  - Lindgren,Amelia M
AU  - Hoyos,Tatiana
AU  - Talkowski,Michael E
AU  - Hanscom,Carrie
AU  - Blumenthal,Ian
AU  - Chiang,Colby
AU  - Ernst,Carl
AU  - Pereira,Shahrin
AU  - Ordulu,Zehra
AU  - Clericuzio,Carol
AU  - Drautz,Joanne M
AU  - Rosenfeld,Jill A
AU  - Shaffer,Lisa G
AU  - Velsher,Lea
AU  - Pynn,Tania
AU  - Vermeesch,Joris
AU  - Harris,David J
AU  - Gusella,James F
AU  - Liao,Eric C
AU  - Morton,Cynthia C
TI  - Haploinsufficiency of KDM6A is associated with severe psychomotor retardation, global growth restriction, seizures and cleft palate
SN  - 1432-1203
PY  - 2013///0618
KW  - Abnormalities, Multiple
KW  - genetics
KW  - Animals
KW  - Branchial Region
KW  - enzymology
KW  - Cell Line
KW  - Chromosomes, Human, Pair 5
KW  - Cleft Palate
KW  - Comparative Genomic Hybridization
KW  - DNA Copy Number Variations
KW  - Female
KW  - Gene Knockdown Techniques
KW  - Haploinsufficiency
KW  - Histone Demethylases
KW  - Humans
KW  - Intellectual Disability
KW  - Karyotyping
KW  - Microcephaly
KW  - Muscle Hypotonia
KW  - Nuclear Proteins
KW  - Phenotype
KW  - Psychomotor Disorders
KW  - Seizures
KW  - Translocation, Genetic
KW  - X Chromosome
KW  - Young Adult
KW  - Zebrafish
KW  - embryology
KW  - Zebrafish Proteins
N1  - Publication Type: Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1007/s00439-013-1263-x
ER  -