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

[Analysis of clinical phenotype and genetic variant in a case of familial hemophagocytic lymphohistiocytosis type Ⅲ].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Jun 2022

Wang Yue, Luo Qiang, Tian Peichao, Liu Yufeng, Wang Huaili

Abstract excerpt

OBJECTIVE: To explore the genetic basis for a newborn with familial hemophagocytic lymphohistiocytosis type 3 (FHL3). METHODS: Clinical and laboratory data of the newborn and his family members were reviewed. Whole exome sequencing (including and flanking intronic regions) was carried out. Candidate variants were verified by Sanger sequencing. Wild type and mutant minigene vectors containing exon 23, intron 23...

Read the complete abstract on PubMed

Topics

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

Share to Exons
Share to HEK293 Cells

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Lymphohistiocytosis, Hemophagocytic

Share to Membrane Proteins

Share to Mutation

Share to Pedigree

Share to Phenotype

Source

Identifiers

PMID: 35773766
DOI: 10.3760/cma.j.cn511374-20210202-00107

Genes

UNC13D
FHL3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

[Analysis of clinical phenotype and genetic variant in a case of familial hemophagocytic lymphohistiocytosis type Ⅲ].PMID 35773766Read ↗

[Familial Haemophagocytic Lymphohistiocytosis Occurs in A Fetus at His Third Trimester-A Case Report].Semantic proximity Read ↗

Founder effects in two predominant intronic mutations of UNC13D, c.118-308C>T and c.754-1G>C underlie the unusual predominance of type 3 familial hemophagocytic lymphohistiocytosis (FHL3) in Korea.Semantic proximity Read ↗

The 253‐kb inversion and deep intronic mutations in <i>UNC13D</i> are present in North American patients with familial hemophagocytic lymphohistiocytosis 3Semantic proximity Read ↗

Clinical, immunological and genetic findings in patients with UNC13D deficiency (FHL3): A systematic review.Semantic proximity Read ↗

Genotype-phenotype study of familial haemophagocytic lymphohistiocytosis type 3.Semantic proximity Read ↗

[Clinical features and genetic analysis of a case with Perlman syndrome due to variant of DIS3L2 gene].Semantic proximity Read ↗

Novel and atypical splicing mutation in a compound heterozygous UNC13D defect presenting in Familial Hemophagocytic Lymphohistiocytosis triggered by EBV infection.Semantic proximity Read ↗

Novel mutations in the UNC13D gene carried by a Chinese neonate with hemophagocytic lymphohistiocytosis.Semantic proximity Read ↗

UNC13D mutation presenting as fulminant familial hemophagocytic lymphohistiocytosis.Semantic proximity Read ↗

Detection of a novel gross deletion in the UNC13D gene ends the diagnostic odyssey for a family with familial hemophagocytic lymphohistiocytosis 3Semantic proximity Read ↗

Detection of a novel gross deletion in the UNC13D gene ends the diagnostic odyssey for a family with familial hemophagocytic lymphohistiocytosis 3.Semantic proximity Read ↗

Clinical and Genetic Analysis of Nine Suspected Familial Haemophagocytic Lymphohistiocytosis Patients for MUNC13-4 Deficiency and Introducing Four Novel Mutations in UNC13D.Semantic proximity Read ↗

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