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

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

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Jul 2023

Yuan Lin, Zhao Peng, Sheng Qianqian, Mu Weihang, Xu Gang, Liu Jian

Abstract excerpt

OBJECTIVE: To analyze the clinical phenotype and genetic basis of a child with Alazami syndrome (AS). METHODS: A child who presented at Tianjin Children's Hospital on June 13, 2021 was selected as the study subject. The child was subjected to whole exome sequencing (WES), and candidate variants were verified by Sanger sequencing. RESULTS: WES revealed that the child has harbored two frameshifting variants of the...

Read the complete abstract on PubMed

Topics

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

Share to Child
Share to Dwarfism

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Exome Sequencing

Share to Intellectual Disability

Share to Microcephaly

Share to Mothers

Share to Mutation

Source

Identifiers

PMID: 37368391
DOI: 10.3760/cma.j.cn511374-20220610-00399

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

[Clinical and genetic analysis of a child with Alazami syndrome due to compound heterozygous variants of LARP7 gene].PMID 37368391Read ↗

[Genetic diagnosis of a Chinese pedigree affected with Alazami syndrome].Semantic proximity Read ↗

Further phenotypic delineation of Alazami syndrome.Semantic proximity Read ↗

Novel Mutation in LARP7 in Two Iranian Consanguineous Families with Syndromic Intellectual Disability and Facial Dysmorphism.Semantic proximity Read ↗

[Clinical characteristics and genetic analysis of a case of infantile Schaaf-Yang syndrome due to a heterozygous variant of MAGEL2 gene].Semantic proximity Read ↗

Exome Sequencing Detects Uniparental Disomy of Chromosome 4 Revealing a LARP7 Pathogenic Variant Responsible for Alazami Syndrome: A Case Report.Semantic proximity Read ↗

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

[Clinical phenotype and genetic analysis of a child with Acid-labile subunit deficiency due to variant of IGFALS gene].Semantic proximity Read ↗

[Clinical features and gene mutation analysis of patients with Alagille syndrome].Semantic proximity Read ↗

[Genetic analysis of a child with Malan syndrome].Semantic proximity Read ↗

[Clinical and genetic analysis of a child with X-linked mental retardation due to variant of SLC9A7 gene].Semantic proximity Read ↗

[Clinical features and genetic analysis of a child with EAST/SeSAME syndrome].Semantic proximity Read ↗

Compound Phenotype Due to Recessive Variants in LARP7 and OTOG Genes Disclosed by an Integrated Approach of SNP-Array and Whole Exome Sequencing.Semantic proximity Read ↗

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