Article
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.
Molecular genetics & genomic medicine - 1 May 2026
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
Abstract excerpt
BACKGROUND: Shwachman-Diamond syndrome type 2 (SDS2) is a rare ribosomopathy caused by biallelic mutations in the EFL1 gene. This condition presents with features similar to classic SDS1 such as pancreatic insufficiency and haematologic abnormalities. CASE PRESENTATION: We report a Palestinian female infant admitted to the NICU at H-Clinic Hospital, Ramallah, in January 2023, with a homozygous mutation in the...
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