A novel homozygous truncating variant in PPFIBP1 further delineates PPFIBP1-associated neurodevelopmental disorder.
Waqas A, Liaqat R, Shaheen S, Khan AZ, Mujahid, Habib AH, Binothman N, Aljadani M, Zehri Z, Shaheen S, Alkathiri A, Naz R, Umair M, Abbas S.
Waqas A, et al. Among authors: habib ah.
Int J Dev Neurosci. 2023 Apr;83(2):191-200. doi: 10.1002/jdn.10247. Epub 2022 Dec 30.
Int J Dev Neurosci. 2023.
PMID: 36527195