Hepatic phenotypes of EFL1-related Shwachman-Diamond syndrome in a biopsy-validated study-Reference-Cited by-同舟云学术

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Hepatic phenotypes of EFL1-related Shwachman-Diamond syndrome in a biopsy-validated study

Published:2024-09 Issue:3 Volume:81 Page:e102-e104
ISSN:0168-8278
Container-title:Journal of Hepatology
language:en
Short-container-title:Journal of Hepatology

Author:

Zhu Bing^ORCID,Guo Yibing,Lv Sa^ORCID,Ling Xiuxin^ORCID,You Shaoli

Publisher

Elsevier BV

Reference8 articles.

1. The natural history of Shwachman-Diamond syndrome-associated liver disease from childhood to adulthood;Toiviainen-Salo;J Pediatr,2009

2. Predisposition to myeloid malignancies in Shwachman-Diamond syndrome: biological insights and clinical advances;Reilly;Blood,2023

3. The syndrome of pancreatic insufficiency and bone marrow dysfunction;Shwachman;J Pediatr,1964

4. Shwachman Diamond syndrome: narrow genotypic spectrum and variable clinical features;Thompson;Pediatr Res,2022

5. Whole exome sequencing discloses heterozygous variants in the DNAJC21 and EFL1 genes but not in SRP54 in 6 out of 16 patients with Shwachman-Diamond Syndrome carrying biallelic SBDS mutations;Morini;Br J Haematol,2019

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