Beaman, Glenda M

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