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 two couples with a history of multiple fetal malformations].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Jul 2021

Tao Dachang, Liu Mohan, Yang Yuan, Liu Yunqiang

Abstract excerpt

OBJECTIVE: To explore the genetic basis for a couple with recurrent conceptions of fetus with abnormal longbones, and another couple with a history of omphalocele. METHODS: Genomic DNA was extracted from the peripheral blood samples from both couples. All exons and flanking regions were analyzed with next generation sequencing. Candidate variants were verified by Sanger sequencing. RESULTS: Couple one was found...

Read the complete abstract on PubMed

Topics

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

Share to Beckwith-Wiedemann Syndrome
Share to Fetus

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mutation

Source

Identifiers

PMID: 34247368
DOI: 10.3760/cma.j.cn511374-20200509-00331

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 two couples with a history of multiple fetal malformations].PMID 34247368Read ↗

[Analysis of a case with gonadal mosaicism for COL1A2 variant].Semantic proximity Read ↗

Identification of genetic alterations in couples and their products of conceptions from recurrent pregnancy loss in North Indian populationSemantic proximity Read ↗

Genetics of recurrent pregnancy loss: a reviewSemantic proximity Read ↗

[Genetic analysis of a fetus with renal dysplasia/hypoplasia due to a variant of GREB1L gene and literature review].Semantic proximity Read ↗

Beckwith-Wiedemann Syndrome in Newborn of Mother with HELLP Syndrome/Preeclampsia: An Analysis of Literature and Case Report with Fetal Growth Restriction and Absence of CDKN1C Typical Pathogenic Genetic Variation.Semantic proximity Read ↗

Placental Mesenchymal Dysplasia and Beckwith–Wiedemann SyndromeSemantic proximity Read ↗

A novel maternally inherited CDKN1C variant in a familial beckwith-wiedemann syndrome case: expanding the genotype-phenotype spectrum.Semantic proximity Read ↗

[Case Study] Genetic and Clinical Insights into Congenital Leukemia in a Newborn Conceived via IVF: A Rare Case Study of Congenital Leukemia in One of the Separate TwinsSemantic proximity Read ↗

Familial Beckwith-Wiedemann syndrome: Prenatal manifestation and a possible expansion of the phenotype.Semantic proximity Read ↗

[Phenotypic and mutation analysis of a fetus with Cornelia de Lange syndrome Ⅰ].Semantic proximity Read ↗

Preimplantation genetic testing for recurrent autosomal dominant osteogenesis imperfecta associated with paternal gonosomal mosaicismSemantic proximity Read ↗

Familial Beckwith-Wiedemann syndrome due to CDKN1C mutation manifesting with recurring omphalocele.Semantic proximity Read ↗

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