Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

[Genetic and clinical analysis of a child with Shwachman-Diamond syndrome due to compound heterozygous variants of SBDS gene].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Feb 2024

Li Suli, Yu Zhidan, Zhou Fang, Wang Huan, Wang Yuesheng, Mei Shiyue, Li Xiaoqin

Abstract excerpt

OBJECTIVE: To analyze the clinical features and genetic characteristics of a patient with Shwachman-Diamond syndrome (SDS) due to compound heterozygous variants of SBDS gene. METHODS: A female child with SDS who was admitted to the Children's Hospital Affiliated to Zhengzhou University in February 2022 was selected as the study subject. Clinical data of the child was collected. Peripheral blood samples of the...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Diarrhea
Share to Genetic Testing

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genomics

Share to Growth Disorders

Share to Infant

Share to Mutation

Share to Proteins

Source

Identifiers

PMID: 38311561
DOI: 10.3760/cma.j.cn511374-20221203-00832

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

[Genetic and clinical analysis of a child with Shwachman-Diamond syndrome due to compound heterozygous variants of SBDS gene].PMID 38311561Read ↗

Clinical and genetic characteristics of Chinese patients with Shwachman Diamond syndrome: a literature review of Chinese publication.Semantic proximity Read ↗

Shwachman-diamond syndrome: A case report.Semantic proximity Read ↗

Overcoming the pitfalls of NGS-based molecular diagnosis of Shwachman-Diamond syndromeSemantic proximity Read ↗

[Two cases of Shwachman-Diamond syndrome with genetic confirmation and literature review].Semantic proximity Read ↗

[Clinical and genetic analysis of a child with Alazami syndrome due to compound heterozygous variants of LARP7 gene].Semantic proximity Read ↗

[Analysis of a child with SPONASTRIME dysplasia due to compound heterozygous variants of TONSL gene].Semantic proximity Read ↗

Shwachman Diamond syndrome: narrow genotypic spectrum and variable clinical features.Semantic proximity Read ↗

[Clinical characteristics and genetic analysis of a child with Dyggve-Melchior-Clausen syndrome due to variant of DYM gene].Semantic proximity Read ↗

[Clinical and genetic analysis of a child with Spondyloocular syndrome due to compound heterozygous variants of XYLT2 gene].Semantic proximity Read ↗

[Analysis of variants of VPS13B gene in a child with Cohen syndrome].Semantic proximity Read ↗

[Analysis of clinical phenotype and genetic variants in a child with mitochondrial F-S disease due to variants of FDXR gene].Semantic proximity Read ↗

Draft consensus guidelines for diagnosis and treatment of Shwachman-Diamond syndrome.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.