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

[Phenotypic and genetic analysis of a family affected with microvillus inclusion disease].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Dec 2016

Mao Man, Guo Li, Zhang Zhanhui, Wang Bin, Huang Shanhua, Song Yuanzong, Chen Fengping, Wen Wangrong

Abstract excerpt

OBJECTIVE: To explore the clinical features and mutations of MYO5B gene in a family affected with microvillus inclusion disease. METHODS: Clinical data of an infant affected with microvillus inclusion disease was collected. Genomic DNA was extracted from peripheral blood samples from the patient and her parents. PCR amplification and Sanger sequencing were performed to analyze all the exons and their flanking...

Read the complete abstract on PubMed

Topics

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

Share to Family
Share to Genetic Testing

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Infant

Share to Malabsorption Syndromes

Share to Microvilli

Share to Mucolipidoses

Share to Myosin Heavy Chains

Share to Myosin Type V

Source

Identifiers

PMID: 27984607
DOI: 10.3760/cma.j.issn.1003-9406.2016.06.010

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

[Phenotypic and genetic analysis of a family affected with microvillus inclusion disease].PMID 27984607Read ↗

[Clinical features and MYO5B mutations of a family affected by microvillus inclusion disease].Semantic proximity Read ↗

An overview and online registry of microvillus inclusion disease patients and their MYO5B mutations.Semantic proximity Read ↗

Two cases of microvillus inclusion disease caused by MYO5B deficiency with prenatal abnormalities.Semantic proximity Read ↗

Novel MYO5B mutation in microvillous inclusion disease of Syrian ancestry.Semantic proximity Read ↗

Microvillus inclusion disease with novel MYO5B pathogenic variants.Semantic proximity Read ↗

Uncovering the Relationship Between Genes and Phenotypes Beyond the Gut in Microvillus Inclusion Disease.Semantic proximity Read ↗

MYO5B, STX3, and STXBP2 mutations reveal a common disease mechanism that unifies a subset of congenital diarrheal disorders: A mutation update.Semantic proximity Read ↗

MYO5B Novel Homozygous Variant c.2090+3A>T Causes Intron Retention and is Related To Severe Cholestasis and Intractable DiarrheaSemantic proximity Read ↗

Computational analysis and visualization of MYO5B mutations provide novel insights into the pathogenic mechanisms of MVIDSemantic proximity Read ↗

Functional characterization of mutations in the myosin Vb gene associated with microvillus inclusion disease.Semantic proximity Read ↗

Congenital Diarrhea and Cholestatic Liver Disease: Phenotypic Spectrum Associated with MYO5B MutationsSemantic proximity Read ↗

MYO5B mutations cause microvillus inclusion disease and disrupt epithelial cell polaritySemantic proximity Read ↗

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