Loss-of-function variants in JPH1 cause congenital myopathy with prominent facial and ocular involvement.
Johari M, Topf A, Folland C, Duff J, Dofash L, Marti P, Robertson T, Vilchez J, Cairns A, Harris E, Marini-Bettolo C, Hundallah K, Alhashem AM, Al-Owain M, Maroofian R, Ravenscroft G, Straub V.
Johari M, et al. Among authors: hundallah k.
J Med Genet. 2024 Sep 24;61(10):992-998. doi: 10.1136/jmg-2024-109970.
J Med Genet. 2024.
PMID: 39209426
Free PMC article.