De novo mutations of the gene encoding the histone acetyltransferase KAT6B in two patients with Say-Barber/Biesecker/Young-Simpson syndrome

American Journal of Medical Genetics, Part A

Volumn 161, Issue 4, 2013, Pages 884-888

  Szakszon, Katalin ^a   Salpietro, Carmelo ^b   Kakar, Naseebullah ^c   Knegt, Alida C ^d   Oláh, Éva ^a   Dallapiccola, Bruno ^e   Borck, Guntram ^c  

^a UNIVERSITY OF DEBRECEN   (Hungary)

^b UNIVERSITY OF MESSINA   (Italy)

^c UNIVERSITY OF ULM   (Germany)

^d ACADEMIC MEDICAL CENTER   (Netherlands)

^e BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

Author keywords

Blepharophimosis; KAT6B; Mental retardation; Patellar hypoplasia; Say Barber Biesecker Young Simpson syndrome

Indexed keywords

HISTONE ACETYLTRANSFERASE; LEVOTHYROXINE;

AMINO ACID SUBSTITUTION; ARTICLE; BLEPHAROPHIMOSIS; CASE REPORT; CHILD; CLINICAL FEATURE; ECHOGRAPHY; FEMALE; GASTROINTESTINAL MALFORMATION; GENE; GENE LOCUS; GENE MUTATION; GENETIC CODE; GENOTYPE PHENOTYPE CORRELATION; HETEROZYGOTE; HUMAN; HYPOTHYROIDISM; INDEL MUTATION; INFANT; KAT6B GENE; MALE; MENTAL RETARDATION MALFORMATION SYNDROME; NEPHROLITHIASIS; NEUROIMAGING; NONSENSE MUTATION; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEOTIDE SEQUENCE; PATENT FORAMEN OVALE; PRESCHOOL CHILD; PRIORITY JOURNAL; SAY BARBER BIESECKER YOUNG SIMPSON SYNDROME;

ABNORMALITIES, MULTIPLE; BASE SEQUENCE; BLEPHAROPHIMOSIS; CHILD, PRESCHOOL; COMPARATIVE GENOMIC HYBRIDIZATION; CONGENITAL HYPOTHYROIDISM; EXONS; FACIES; FEMALE; GENETIC ASSOCIATION STUDIES; HEART DEFECTS, CONGENITAL; HETEROZYGOTE; HISTONE ACETYLTRANSFERASES; HUMANS; INFANT; INTELLECTUAL DISABILITY; JOINT INSTABILITY; KARYOTYPE; MALE; MUTATION; PHENOTYPE;

EID: 84875511898     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.35848     Document Type: Article

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