22q11.2 duplications in a UK cohort with bladder exstrophy-epispadias complex. [electronic resource]
- American journal of medical genetics. Part A 03 2019
- 404-409 p. digital
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
1552-4833
10.1002/ajmg.a.61032 doi
Abnormalities, Multiple--diagnosis Adaptor Proteins, Signal Transducing--genetics Bladder Exstrophy--diagnosis Chromosome Duplication--genetics Chromosomes, Human, Pair 22--genetics DNA Copy Number Variations DiGeorge Syndrome--diagnosis Female Genetic Association Studies Genetic Predisposition to Disease Humans Male Odds Ratio Phenotype Polymorphism, Single Nucleotide United Kingdom