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 characteristics and genetic analysis of a child with Dyggve-Melchior-Clausen syndrome due to variant of DYM gene].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Jul 2026

Liu Haiyi, Zhang Qianwen, Chang Guoying, Yang Fan, Li Juan, Li Qun, Gu Shili, Wang Zhigang, Yao Ruen, Yu Tingting, Wang Xiumin

Abstract excerpt

OBJECTIVE: To analyze the clinical phenotype and genetic etiology of patients with Dyggve-Melchior-Clausen syndrome (DMC syndrome). METHODS: A child with DMC syndrome diagnosed at Shanghai Children's Medical Center, School of Medicine, Shanghai Jiao Tong University in August 2020 was selected as study subject. A retrospective analysis was carried out to collect the proband's clinical data. Peripheral blood...

Read the complete abstract on PubMed

Topics

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

Share to Child
Share to Child, Preschool

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Exome Sequencing

Share to Infant

Share to Intellectual Disability

Share to Intracellular Signaling Peptides and Proteins

Share to Pedigree

Share to Young Adult

Source

Identifiers

PMID: 42342639
DOI: 10.3760/cma.j.cn511374-20250428-00261

Genes

DYM

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

[Clinical characteristics and genetic analysis of a child with Dyggve-Melchior-Clausen syndrome due to variant of DYM gene].PMID 42342639Read ↗

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

A homozygous nonsense variant in DYM underlies Dyggve-Melchior-Clausen syndrome associated with ectodermal features.Semantic proximity Read ↗

[Analysis of a child with DIGFAN syndrome due to variant of MORC2 gene].Semantic proximity Read ↗

[Clinical phenotype and molecular genetic analysis of seven children with CHARGE syndrome].Semantic proximity Read ↗

[Genetic analysis of a child with Dias-Logan syndrome due to variant of BCL11A gene].Semantic proximity Read ↗

Clinical and molecular findings in Cornelia de Lange syndrome. Case series.Semantic proximity Read ↗

[Clinical features and genetic analysis of a child with Congenital disorder of glycosylation due to novel variants of COG6 gene].Semantic proximity Read ↗

[Clinical and genetic analysis of a child with MRXS34 syndrome due to variant of NONO gene].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 ↗

Mutations in a novel gene Dymeclin (FLJ20071) are responsible for Dyggve-Melchior-Clausen syndrome.Semantic proximity Read ↗

[Clinical phenotype and genetic analysis of a child with CAKUTHED syndrome due to variant of PBX1 gene].Semantic proximity Read ↗

Dual rare genetic diseases in five pediatric patients: insights from next-generation diagnostic methodsSemantic proximity Read ↗

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