Intragenic rearrangements in X-linked intellectual deficiency: results of a-CGH in a series of 54 patients and identification of TRPC5 and KLHL15 as potential XLID genes.
Mignon-Ravix, Cécile
Intragenic rearrangements in X-linked intellectual deficiency: results of a-CGH in a series of 54 patients and identification of TRPC5 and KLHL15 as potential XLID genes. [electronic resource] - American journal of medical genetics. Part A Aug 2014 - 1991-7 p. digital
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
1552-4833
10.1002/ajmg.a.36602 doi
Child, Preschool
Chromosome Mapping
Chromosomes, Human, X
Comparative Genomic Hybridization
DNA Copy Number Variations
Gene Deletion
Genes, X-Linked
Genetic Loci
Genome-Wide Association Study
Humans
Intellectual Disability--diagnosis
Male
Microfilament Proteins--genetics
TRPC Cation Channels--genetics
Translocation, Genetic
X Chromosome Inactivation
Intragenic rearrangements in X-linked intellectual deficiency: results of a-CGH in a series of 54 patients and identification of TRPC5 and KLHL15 as potential XLID genes. [electronic resource] - American journal of medical genetics. Part A Aug 2014 - 1991-7 p. digital
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
1552-4833
10.1002/ajmg.a.36602 doi
Child, Preschool
Chromosome Mapping
Chromosomes, Human, X
Comparative Genomic Hybridization
DNA Copy Number Variations
Gene Deletion
Genes, X-Linked
Genetic Loci
Genome-Wide Association Study
Humans
Intellectual Disability--diagnosis
Male
Microfilament Proteins--genetics
TRPC Cation Channels--genetics
Translocation, Genetic
X Chromosome Inactivation