Haploinsufficiency of the gene Quaking (QKI) is associated with the 6q terminal deletion syndrome.

Backx, Liesbeth

Haploinsufficiency of the gene Quaking (QKI) is associated with the 6q terminal deletion syndrome. [electronic resource] - American journal of medical genetics. Part A Feb 2010 - 319-26 p. digital

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

1552-4833

10.1002/ajmg.a.33202 doi


Abnormalities, Multiple--genetics
Adult
Chromosome Deletion
Chromosomes, Human, Pair 6
Comparative Genomic Hybridization
DNA Mutational Analysis
Female
Humans
In Situ Hybridization, Fluorescence
Karyotyping
Male
Phenotype
RNA-Binding Proteins--genetics
Syndrome
Translocation, Genetic