Xq22.3-q23 deletion including ACSL4 in a patient with intellectual disability.

Gazou, Anastasia

Xq22.3-q23 deletion including ACSL4 in a patient with intellectual disability. [electronic resource] - American journal of medical genetics. Part A Apr 2013 - 860-4 p. digital

Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't

1552-4833

10.1002/ajmg.a.35778 doi


Abnormalities, Multiple--diagnosis
Child
Chromosome Deletion
Chromosomes, Human, X
Coenzyme A Ligases--genetics
Facies
Gene Deletion
Genome-Wide Association Study
Genotype
Humans
In Situ Hybridization, Fluorescence
Intellectual Disability--genetics
Male
Phenotype
Polymorphism, Single Nucleotide
Long-Chain-Fatty-Acid-CoA Ligase