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