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.
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| Title: | 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. |
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| Authors: | Taha, Ibrahim1,2 (AUTHOR) ibrahim.taha@aaup.edu, Minelli, Antonella2 (AUTHOR), Danesino, Cesare2 (AUTHOR), Swalmeh, Abdelrahman3 (AUTHOR), Huraibat, Khalil1 (AUTHOR), Al‐Labadi, Liana1 (AUTHOR), Obar, Rema1 (AUTHOR), Beshtawi, Khaled R.4 (AUTHOR), Samrah, Lubna Abu1 (AUTHOR), Mohammad, Yousef Awlad1 (AUTHOR), Farah, Aya1 (AUTHOR), Obar, Abdulrahman3 (AUTHOR), Khalaf, Mutasem5 (AUTHOR), Nasser, Orwa1,6 (AUTHOR) |
| Source: | Molecular Genetics & Genomic Medicine. May2026, Vol. 14 Issue 5, p1-9. 9p. |
| Database: | Academic Search Ultimate |
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| ISSN: | 23249269 |
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| DOI: | 10.1002/mgg3.70226 |
