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

Szakszon, Katalin; Salpietro, Carmelo; Kakar, Naseebullah; Knegt, Alida C; Oláh, Éva; Dallapiccola, Bruno; Borck, Guntram

Szakszon, Katalin; Salpietro, Carmelo; Kakar, Naseebullah; Knegt, Alida C; Oláh, Éva; Dallapiccola, Bruno; Borck, Guntram.

Affiliation

Szakszon K; Institute of Pediatrics, Clinical Genetics Center, University of Debrecen, Medical & Health Science Center, Debrecen, Hungary. szakszon.katalin@gmail.com

Am J Med Genet A ; 161A(4): 884-8, 2013 Apr.

Article in En | MEDLINE | ID: mdl-23436491

Subject(s)

Blepharophimosis/genetics; Congenital Hypothyroidism/genetics; Heart Defects, Congenital/genetics; Histone Acetyltransferases/genetics; Intellectual Disability/genetics; Joint Instability/genetics; Mutation; Abnormalities, Multiple; Base Sequence; Blepharophimosis/diagnosis; Child, Preschool; Comparative Genomic Hybridization; Congenital Hypothyroidism/diagnosis; Exons; Facies; Female; Genetic Association Studies; Heart Defects, Congenital/diagnosis; Heterozygote; Humans; Infant; Intellectual Disability/diagnosis; Joint Instability/diagnosis; Karyotype; Male; Phenotype

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Blepharophimosis / Congenital Hypothyroidism / Histone Acetyltransferases / Heart Defects, Congenital / Joint Instability / Intellectual Disability / Mutation Type of study: Diagnostic_studies / Prognostic_studies Limits: Child, preschool / Female / Humans / Infant / Male Language: En Journal: Am J Med Genet A Journal subject: GENETICA MEDICA Year: 2013 Type: Article Affiliation country: Hungary

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