Autosomal dominant Shwachman–Diamond syndrome with a novel heterozygous missense variant in the SRP54 gene causing severe phenotypic features
Author:
Affiliation:
1. National Children’s Cancer Service Children’s Health Ireland at Crumlin DublinIreland
2. Systems Biology Ireland, School of Medicine University College Dublin Dublin Ireland
Publisher
Wiley
Subject
Hematology
Link
https://onlinelibrary.wiley.com/doi/pdf/10.1111/bjh.17853
Reference18 articles.
1. The syndrome of pancreatic insufficiency and bone marrow dysfunction
2. Shwachman-Diamond syndrome
3. Haematological abnormalities in Shwachman-Diamond syndrome
4. Mutations in SBDS are associated with Shwachman–Diamond syndrome
5. Mutations in signal recognition particle SRP54 cause syndromic neutropenia with Shwachman-Diamond–like features
Cited by 3 articles. 订阅此论文施引文献 订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献
1. Telomere biology and ribosome biogenesis: structural and functional interconnections;Biochemistry and Cell Biology;2023-10-01
2. Severe congenital neutropenia, SRP54 pathogenicity, and a framework for surveillance;American Journal of Medical Genetics Part A;2023-02-23
3. Phenotypic Variation in Two Siblings Affected with Shwachman-Diamond Syndrome: The Use of Expert Variant Interpreter (eVai) Suggests Clinical Relevance of a Variant in the KMT2A Gene;Genes;2022-07-23
1.学者识别学者识别
2.学术分析学术分析
3.人才评估人才评估
"同舟云学术"是以全球学者为主线,采集、加工和组织学术论文而形成的新型学术文献查询和分析系统,可以对全球学者进行文献检索和人才价值评估。用户可以通过关注某些学科领域的顶尖人物而持续追踪该领域的学科进展和研究前沿。经过近期的数据扩容,当前同舟云学术共收录了国内外主流学术期刊6万余种,收集的期刊论文及会议论文总量共计约1.5亿篇,并以每天添加12000余篇中外论文的速度递增。我们也可以为用户提供个性化、定制化的学者数据。欢迎来电咨询!咨询电话:010-8811{复制后删除}0370
www.globalauthorid.com
TOP
Copyright © 2019-2024 北京同舟云网络信息技术有限公司 京公网安备11010802033243号 京ICP备18003416号-3