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