The KAT6B-related disorders genitopatellar syndrome and Ohdo/SBBYS syndrome have distinct clinical features reflecting distinct molecular mechanisms

Human Mutation

Volumn 33, Issue 11, 2012, Pages 1520-1525

  Campeau, Philippe M ^a   Lu, James T ^a   Dawson, Brian C ^a   Fokkema, Ivo F A C ^b   Robertson, Stephen P ^c   Gibbs, Richard A ^a   Lee, Brendan H ^a,d  

^a BAYLOR COLLEGE OF MEDICINE   (United States)

^b LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^c UNIVERSITY OF OTAGO   (New Zealand)

^d HOWARD HUGHES MEDICAL INSTITUTE   (United States)

Author keywords

Database; Genitopatellar syndrome; KAT6B; MYST4; Ohdo syndrome

Indexed keywords

HISTONE ACETYLTRANSFERASE; HISTONE ACETYLTRANSFERASE KAT6B; UNCLASSIFIED DRUG;

ARTICLE; CARBOXY TERMINAL SEQUENCE; CLINICAL FEATURE; DATA BASE; FEMALE; GAIN OF FUNCTION MUTATION; GENE; GENETIC DISORDER; GENITOPATELLAR SYNDROME; GENOTYPE PHENOTYPE CORRELATION; HAPLOINSUFFICIENCY; HUMAN; KAT 6B GENE; LOSS OF FUNCTION MUTATION; MALE; NUCLEOTIDE SEQUENCE; OHDO SYNDROME; PRIORITY JOURNAL; PROTEIN DOMAIN; PROTEIN FUNCTION;

ABNORMALITIES, MULTIPLE; BASE SEQUENCE; BLEPHAROPHIMOSIS; BLEPHAROPTOSIS; CRANIOFACIAL ABNORMALITIES; DATABASES, NUCLEIC ACID; DNA; FEMALE; GENETIC ASSOCIATION STUDIES; HAPLOINSUFFICIENCY; HEART DEFECTS, CONGENITAL; HISTONE ACETYLTRANSFERASES; HUMANS; INTELLECTUAL DISABILITY; KIDNEY; MALE; MOLECULAR SEQUENCE DATA; MUTATION; PATELLA; PSYCHOMOTOR DISORDERS; SCROTUM; SEQUENCE DELETION; UROGENITAL ABNORMALITIES;

EID: 84867470460     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22141     Document Type: Article

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