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Article

A Case Report of Shwachman-Diamond Syndrome Caused by Heterozygous Variants in the EFL1 Gene and Literature Review.

Molecular genetics & genomic medicine - 1 Jun 2026

Zhou Xiaoying, Li Hongxin, Yang Xinyi, Wang Chunli, Zhang Wenting

Abstract excerpt

OBJECTIVE: This investigation reports on a Shwachman-Diamond syndrome (SDS) case arising from compound heterozygous genetic variations affecting the EFL1 locus. A systematic review of published literature was undertaken to compile data on clinical manifestations, management strategies, and prognostic indicators in SDS cases with identified EFL1 genetic alterations. METHODS: The clinical data of a neonatal SDS...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 42281160
DOI: 10.1002/mgg3.70249
PMCID: PMC13260665

Genes

EFL1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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