190-kb duplication in 1p36.11 including PIGV and ARID1A genes in a girl with intellectual disability and hexadactyly.

Authors :: Coutton C
Bidart M
Rendu J
Devillard F
Vieville G
Amblard F
Lopez G
Jouk PS
Satre V
Source :: Clinical genetics [Clin Genet] 2013 Dec; Vol. 84 (6), pp. 596-9. Date of Electronic Publication: 2013 Mar 25.
Publication Year :: 2013

Subjects :: Child, Preschool
Comparative Genomic Hybridization
DNA-Binding Proteins
Facies
Female
Humans
Infant
Intellectual Disability diagnosis
Limb Deformities, Congenital diagnosis
Phenotype
Chromosome Duplication
Chromosomes, Human, Pair 1
Intellectual Disability genetics
Limb Deformities, Congenital genetics
Mannosyltransferases genetics
Nuclear Proteins genetics
Transcription Factors genetics

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