Sperry, Ethan D

Duplication 2p25 in a child with clinical features of CHARGE syndrome. [electronic resource] - American journal of medical genetics. Part A May 2016 - 1148-54 p. digital

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

1552-4833

10.1002/ajmg.a.37592 doi


Abnormalities, Multiple--genetics
CHARGE Syndrome--genetics
Child
Chromosomes, Human, Pair 2--genetics
DNA Copy Number Variations--genetics
DNA Helicases--genetics
DNA-Binding Proteins--genetics
Female
Gene Duplication--genetics
Genetic Testing
Humans
Mutation
SOXC Transcription Factors--biosynthesis
Trisomy--genetics