Loss-of-function variants in JPH1 cause congenital myopathy with prominent facial and ocular involvement
JPH1基因功能缺失变异会导致先天性肌病,并伴有明显的面部和眼部症状。
期刊:Journal of Medical Genetics
影响因子:3.7
doi:10.1136/jmg-2024-109970
Johari, Mridul; Topf, Ana; Folland, Chiara; Duff, Jennifer; Dofash, Lein; Marti, Pilar; Robertson, Thomas; Vilchez, Juan; Cairns, Anita; Harris, Elizabeth; Marini-Bettolo, Chiara; Hundallah, Khalid; Alhashem, Amal M; Al-Owain, Mohammed; Maroofian, Reza; Ravenscroft, Gianina; Straub, Volker