Dominant mutations in KAT6A cause intellectual disability with recognizable syndromic features

American Journal of Human Genetics

Volumn 96, Issue 3, 2015, Pages 507-513

  Tham, Emma ^a,b   Lindstrand, Anna ^a,b   Santani, Avni ^c,d   Malmgren, Helena ^a,b   Nesbitt, Addie ^c   Dubbs, Holly A ^c   Zackai, Elaine H ^c   Parker, Michael J ^e   Millan, Francisca ^f   Rosenbaum, Kenneth ^g   Wilson, Golder N ^h,i   Nordgren, Ann ^a,b  

^a KAROLINSKA UNIVERSITY HOSPITAL   (Sweden)

^b KAROLINSKA INSTITUTE   (Sweden)

^c CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

^d UNIVERSITY OF PENNSYLVANIA   (United States)

^e SHEFFIELD CHILDREN S HOSPITAL   (United Kingdom)

^f GENEDX   (United States)

^g CHILDREN'S NATIONAL MEDICAL CENTER   (United States)

^h TEXAS TECH UNIVERSITY   (United States)

ⁱ MEDICAL CITY DALLAS HOSPITAL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

HISTONE ACETYLTRANSFERASE; HISTONE H3; HYBRID PROTEIN; KAT6A PROTEIN; UNCLASSIFIED DRUG; KAT6A PROTEIN, HUMAN;

ADOLESCENT; ARTICLE; CARDIOVASCULAR MALFORMATION; CHILD; CHROMOSOMAL LOCALIZATION; CHROMOSOME 8P; CLINICAL ARTICLE; COMPARATIVE GENOMIC HYBRIDIZATION; CRANIOFACIAL MALFORMATION; CRANIOFACIAL SYNOSTOSIS; DISABILITY; ELECTROENCEPHALOGRAM; FAMILY STUDY; FEEDING DISORDER; GENE MUTATION; HAPLOINSUFFICIENCY; HOX GENE; HUMAN; INTELLECTUAL IMPAIRMENT; MICROCEPHALY; MICROGNATHIA; MICRORETROGNATHIA; MOUSE; MULTICENTER STUDY; MUSCLE HYPOTONIA; MUTATION; NONHUMAN; NUCLEAR MAGNETIC RESONANCE IMAGING; PEDIGREE ANALYSIS; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; SYNDROME DELINEATION; TWINS; ZEBRA FISH; CLINICAL TRIAL; EXOME; FEMALE; GENE DELETION; GENE LOCUS; GENETICS; HETEROZYGOTE; INFANT; MALE; METABOLISM; PEDIGREE; PHENOTYPE;

DANIO RERIO; MUS;

ADOLESCENT; CHILD; CHILD, PRESCHOOL; COMPARATIVE GENOMIC HYBRIDIZATION; EXOME; FEMALE; GENE DELETION; GENETIC LOCI; HETEROZYGOTE; HISTONE ACETYLTRANSFERASES; HUMANS; INFANT; INTELLECTUAL DISABILITY; MALE; MICROCEPHALY; MUTATION; PEDIGREE; PHENOTYPE;

EID: 84924246659     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2015.01.016     Document Type: Article

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