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Article

Heterozygous missense variant in EIF6 gene: A novel form of Shwachman-Diamond syndrome?

American journal of medical genetics. Part A - 1 Sept 2020

Koh Ai Ling, Bonnard Carine, Lim Jiin Ying, Liew Woei Kang, Thoon Koh Cheng, Thomas Terrence, Ali Nur Ain Binte, Ng Alvin Yu Jin, Tohari Sumanty, Phua Kong Boo, Venkatesh Byrappa, Reversade Bruno, Jamuar Saumya Shekhar

Abstract excerpt

Shwachman-Diamond syndrome (SDS) is a rare multisystem ribosomal biogenesis disorder characterized by exocrine pancreatic insufficiency, hematologic abnormalities and bony abnormalities. About 90% of patients have biallelic mutations in SBDS gene. Three additional genes-EFL1, DNAJC21 and SRP54 have been reported in association with a SDS phenotype. However, the cause remains unknown for ~10% of patients. Herein,...

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PMID: 32657013
DOI: 10.1002/ajmg.a.61758

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