TY  - GEN
AU  - Sperry,Ethan D
AU  - Schuette,Jane L
AU  - van Ravenswaaij-Arts,Conny M A
AU  - Green,Glenn E
AU  - Martin,Donna M
TI  - Duplication 2p25 in a child with clinical features of CHARGE syndrome
SN  - 1552-4833
PY  - 2017///0104
KW  - Abnormalities, Multiple
KW  - genetics
KW  - CHARGE Syndrome
KW  - Child
KW  - Chromosomes, Human, Pair 2
KW  - DNA Copy Number Variations
KW  - DNA Helicases
KW  - DNA-Binding Proteins
KW  - Female
KW  - Gene Duplication
KW  - Genetic Testing
KW  - Humans
KW  - Mutation
KW  - SOXC Transcription Factors
KW  - biosynthesis
KW  - Trisomy
N1  - Publication Type: Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1002/ajmg.a.37592
ER  -