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 analysis of a child with Generalized arterial calcification of infancy due to variant of ABCC6 gene].

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

Zhao Chunjuan, Liu Tiantian, Liu Fang, Cui Liru, Wang Junping

Abstract excerpt

OBJECTIVE: To explore the clinical manifestations and genetic basis for a rare case of Generalized arterial calcification of infancy (GACI). METHODS: A 44-day-old female infant who was treated at Baoding Hospital of Beijing Children's Hospital Affiliated to Capital Medical University on August 26, 2022 was selected as the study subject. Clinical data of the child was collected, and Trio-whole exome sequencing...

Read the complete abstract on PubMed

Topics

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

Share to DNA Copy Number Variations
Share to Exome Sequencing

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Genetic Testing

Share to Infant

Share to Multidrug Resistance-Associated Proteins

Share to Mutation

Share to Vascular Calcification

Source

Identifiers

PMID: 38818560
DOI: 10.3760/cma.j.cn511374-20230525-00318

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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 analysis of a child with Generalized arterial calcification of infancy due to variant of ABCC6 gene].PMID 38818560Read ↗

Pediatric ABCC6 deficiency: a genotypic and phenotypic analysis.Semantic proximity Read ↗

A Multi-State Structural Genomics Approach Enables Large-Scale, Mechanistic, and Context-Specific Classification of ABCC6 Genetic Variants Implicated in Calcification DiseasesSemantic proximity Read ↗

Ectopic Calcification and Hypophosphatemic Rickets: Natural History of ENPP1 and ABCC6 Deficiencies.Semantic proximity Read ↗

Prenatal Diagnosis and 10-Year Follow-up of Type-II Generalized Arterial Calcification of the Infancy.Semantic proximity Read ↗

Prospective phenotyping of long-term survivors of generalized arterial calcification of infancy (GACI).Semantic proximity Read ↗

Genetics in arterial calcification: lessons learned from rare diseases.Semantic proximity Read ↗

Two newborn babies with generalized arterial calcification of infancy, two new mutations.Semantic proximity Read ↗

Multi-State Structural Genomics Enables Large-Scale, Mechanistic, and Context-Specific Classification of ABCC6 Genetic Variants Implicated in Calcification Diseases.Semantic proximity Read ↗

Mutations in the ABCC6 gene as a cause of generalized arterial calcification of infancy: genotypic overlap with pseudoxanthoma elasticum.Semantic proximity Read ↗

Molecular diagnosis of generalized arterial calcification of infancy (GACI)Semantic proximity Read ↗

ENPP1 homozygous stop-loss variant causing generalized arterial calcifications of infancy: About a severe neonatal clinical case.Semantic proximity Read ↗

Marked hepatic fibrosis with progression towards cirrhosis in generalized arterial calcification of infancy: an unreported association observed in a case carryng a novel ENPP1 variant.Semantic proximity Read ↗

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