Homozygous Pathogenic Variant in Elongation Factor-Like 1 (EFL1) as a Causal Factor in Shwachman-Diamond Syndrome 2 in a Palestinian Child, With Distinct Ocular Manifestations
巴勒斯坦一名儿童的施瓦赫曼-戴蒙德综合征2型是由延伸因子样1(EFL1)纯合致病变异引起的,并伴有明显的眼部表现。
期刊:Molecular Genetics & Genomic Medicine
影响因子:1.6
doi:10.1002/mgg3.70226
Taha, Ibrahim; Minelli, Antonella; Danesino, Cesare; Swalmeh, Abdelrahman; Huraibat, Khalil; Al-Labadi, Liana; Obar, Rema; Beshtawi, Khaled R; Samrah, Lubna Abu; Mohammad, Yousef Awlad; Farah, Aya; Obar, Abdulrahman; Khalaf, Mutasem; Nasser, Orwa