Haploinsufficiency of KDM6A is associated with severe psychomotor retardation, global growth restriction, seizures and cleft palate

Human Genetics

Volumn 132, Issue 5, 2013, Pages 537-552

  Lindgren, Amelia M ^a   Hoyos, Tatiana ^b   Talkowski, Michael E ^c,d,e   Hanscom, Carrie ^c   Blumenthal, Ian ^c   Chiang, Colby ^c   Ernst, Carl ^c   Pereira, Shahrin ^a   Ordulu, Zehra ^a   Clericuzio, Carol ^f   Drautz, Joanne M ^f   Rosenfeld, Jill A ^g   Shaffer, Lisa G ^g   Velsher, Lea ^h   Pynn, Tania ^h   Vermeesch, Joris ⁱ   Harris, David J ^j   Gusella, James F ^c,d,e,k   Liao, Eric C ^b   Morton, Cynthia C ^a,e  

^a BRIGHAM AND WOMEN S HOSPITAL   (United States)

^b MASSACHUSETTS GENERAL HOSPITAL CANCER CENTER   (United States)

^c MASSACHUSETTS GENERAL HOSPITAL   (United States)

^d HARVARD MEDICAL SCHOOL   (United States)

^e BROAD INSTITUTE OF MIT AND HARVARD   (United States)

^f UNIVERSITY OF NEW MEXICO SCHOOL OF MEDICINE   (United States)

^g PERKINELMER INC   (United States)

^h Northwestern Ontario Regional Cancer Centre   (Canada)

ⁱ UNIVERSITY OF LEUVEN   (Belgium)

^j BOSTON CHILDREN S HOSPITAL   (United States)

^k Autism Consortium Inc   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

HISTONE DEMETHYLASE; HISTONE METHYLTRANSFERASE; KDN6A ENZYME; UNCLASSIFIED DRUG;

ARTICLE; BRAIN SIZE; CASE REPORT; CHILD; CHROMOSOME BREAKAGE; CLEFT PALATE; COPY NUMBER VARIATION; CRANIOFACIAL MALFORMATION; DISEASE SEVERITY; FACE DYSMORPHIA; FEMALE; GENE SEQUENCE; GENOME; GROWTH RETARDATION; HAPLOINSUFFICIENCY; HUMAN; INTRON; LYMPHOBLASTOID CELL; MICROARRAY ANALYSIS; MICROCEPHALY; MUSCLE HYPOTONIA; NONHUMAN; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN EXPRESSION; PSYCHOMOTOR RETARDATION; SEIZURE; ZEBRA FISH;

DANIO RERIO;

EID: 84876474042     PISSN: 03406717     EISSN: 14321203     Source Type: Journal    
DOI: 10.1007/s00439-013-1263-x     Document Type: Article

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