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 phenotype and genetic analysis of a fetus with Glutaracidemia type II C].

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

Zhai Shanshan, Liu Ling, Yuan Limin, Cheng Guomei

Abstract excerpt

OBJECTIVE: To explore the clinical phenotype and genetic variants of a fetus with Glutaracidemia type II C (GA II C). METHODS: Clinical data of a 32-year-old pregnant woman and her fetus with GA II C diagnosed at the Third Affiliated Hospital of Zhengzhou University in December 2021 due to the enlargement and enhanced echo of the kidneys and oligohydramnios fluid at 17 weeks were analyzed retrospectively....

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 Fetus

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mutation

Share to Phenotype

Share to Pregnancy

Source

Identifiers

PMID: 37212009
DOI: 10.3760/cma.j.cn511374-20220804-00521

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

[Clinical phenotype and genetic analysis of a fetus with Glutaracidemia type II C].PMID 37212009Read ↗

[Diagnosis of glutaric acidemia type ⅡC by fetal whole exome sequencing].Semantic proximity Read ↗

Clinical utility of chromosomal microarray analysis and whole exome sequencing in fetuses with oligohydramniosSemantic proximity Read ↗

Clinical application of fetal genome-wide sequencing during pregnancy: position statement of the Canadian College of Medical GeneticistsSemantic proximity Read ↗

Genetic etiology and obstetric outcome analysis of fetal cystic hygroma in a single-center studySemantic proximity Read ↗

Genetic causes of isolated and severe fetal growth restriction in normal chromosomal microarray analysisSemantic proximity Read ↗

Perinatal lethal form Gaucher disease with compound heterozygosity of single nucleotide variants and copy number variations presenting as nonimmune hydrops fetalis and cerebellar hypoplasia: A case report.Semantic proximity Read ↗

Genomic abnormalities in apparently isolated polyhydramnios and the role of confirmed fetal phenotype: a systematic review and meta-analysis.Semantic proximity Read ↗

[Genetic analysis of a fetus with Coffin-Siris syndrome 2 due to a novel variant of ARID1A gene].Semantic proximity Read ↗

Prenatal Genetic Analysis of Fetal 17q12 Microdeletion Syndrome and Relation to Kidney AbnormalitiesSemantic proximity Read ↗

Rare metabolic disease mimicking COL4A1/COL4A2 fetal brain phenotype.Semantic proximity Read ↗

Prenatal Deep Phenotyping in Genetic Syndromes Diagnosed in the First Trimester of Pregnancy.Semantic proximity Read ↗

First report of neonatal-onset glutaric aciduria type II in the Iranian population caused by a novel deleterious ETFA variant.Semantic proximity Read ↗

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