A homozygous founder variant in PDE2A causes paroxysmal dyskinesia with intellectual disability.
Yousaf H, Rehmat S, Jameel M, Ibrahim R, Hashmi SN, Makhdoom EUH, Iwaszkiewicz J, Saadi SM, Tariq M, Baig SM, Toft M, Fatima A, Iqbal Z.
Yousaf H, et al. Among authors: rehmat s.
Clin Genet. 2023 Sep;104(3):324-333. doi: 10.1111/cge.14386. Epub 2023 Jun 15.
Clin Genet. 2023.
PMID: 37317634