Joseph T Alaimo Sureni V Mullegama Mary Ann Thomas Sarah H Elsea
10.1186/s13039-015-0179-7
Mol Cytogenet
2015 Oct 5;8:75.
copy number variation encode ptls rai1 sms structural variation
CC BY
https://pubmed.ncbi.nlm.nih.gov/26442755/
Case Reports
PMC4594966
26442755
Copy number loss upstream of RAI1 uncovers gene expression regulatory region that may impact Potocki-Lupski syndrome diagnosis
2015