Deletions in the CDKL5 5' untranslated region lead to CDKL5 deficiency disorder.
Haviland I, Hector RD, Swanson LC, Verran AS, Sherrill E, Frazier Z, Denny AM, Lucash J, Zhang B, Dubbs HA, Marsh ED, Weisenberg JL, Leonard H, Crippa M, Cogliati F, Russo S, Suter B, Rajaraman R, Percy AK, Schreiber JM, Demarest S, Benke TA, Chopra M, Yu TW, Olson HE.
Haviland I, et al. Among authors: suter b.
Am J Med Genet A. 2024 Aug 28:e63843. doi: 10.1002/ajmg.a.63843. Online ahead of print.
Am J Med Genet A. 2024.
PMID: 39205479