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Shwachman-Diamond syndrome due to biallelic EFL1 variants with complex and fatal clinical course in early infancy.

British journal of haematology - 1 Dec 2024

Cario Holger, Bertrand Alexis, Tan Shengjiang, Auber Bernd, Erlacher Miriam, Mair Eva-Maria, von Hardenberg Sandra, Lebrecht Dirk, Revy Patrick, Warren Alan J

Abstract excerpt

Shwachman-Diamond syndrome represents a clinically and genetically heterogeneous disorder. We report on an infant with a very severe, fatal clinical course caused by biallelic EFL1 variants: c.89A>G, p.(His30Arg), and c.2599A>G, p.(Asn867Asp). Functional analysis of patient-derived B-lymphoblastoid and SV40-transformed fibroblast cell lines suggests that the compound heterozygous EFL1 variants impaired mature...

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PMID: 39379149
DOI: 10.1111/bjh.19793
PMCID: PMC11637716

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