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 prenatal diagnosis of a fetus with Short-rib thoracic dysplasia syndrome due to variants of DYNC2H1 gene].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Nov 2025

Zhao Chongyang, Ren Guoping, Bi Jingjing, Jing Cuicui, Zhou Xueting, Li Cimei

Abstract excerpt

OBJECTIVE: To explore the prenatal features and genetic etiology of a fetus with Short-rib cage dysplasia (SRTD) due to variants of DYNC2H1 gene. METHODS: A pregnant women presented at Xinxiang Central Hospital in June 2020 for abnormal prenatal ultrasound findings was selected as the study subject. With informed consent obtained, amniotic fluid sample was extracted from the woman, and clinical data of the fetus...

Read the complete abstract on PubMed

Topics

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

Share to Bone Diseases, Developmental
Share to Cytoplasmic Dyneins

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

Share to Mutation

Share to Pregnancy

Share to Prenatal Diagnosis

Source

Identifiers

PMID: 41645379
DOI: 10.3760/cma.j.cn511374-20250716-00436

Genes

DYNC2H1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 23 Oct 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

[Clinical characteristics and prenatal diagnosis of a fetus with Short-rib thoracic dysplasia syndrome due to variants of DYNC2H1 gene].PMID 41645379Read ↗

[Genetic analysis of a fetus with Short-rib thoracic dysplasia 8 with or without polydactyly due to variants of DYNC2I1 gene].Semantic proximity Read ↗

Novel Compound Heterozygous Variants of DYNC2H1 Causing The Short Rib-Polydactyly Syndrome, Type III With Situs Inversus Totalis in a FetusSemantic proximity Read ↗

Prenatal diagnosis of short-rib polydactyly syndrome type III or short-rib thoracic dysplasia 3 with or without polydactyly (SRTD3) associated with compound heterozygous mutations in DYNC2H1 in a fetus.Semantic proximity Read ↗

Prenatal Diagnosis of Jeune Syndrome Caused by Compound Heterozygous Variants in DYNC2H1 Gene-Case Report with Rapid WES Procedure and Differential Diagnosis of Lethal Skeletal Dysplasias.Semantic proximity Read ↗

Clinical insights and molecular study of three foetuses with DYNC2H1 gene mutation causing short rib thoracic dystrophy.Semantic proximity Read ↗

Targeted gene panel sequencing prenatally detects two novel mutations of DYNC2H1 in a fetus with increased biparietal diameter and polyhydramnios.Semantic proximity Read ↗

Characterization of a novel deep-intronic variant in DYNC2H1 identified by whole-exome sequencing in a patient with a lethal form of a short-rib thoracic dysplasia type III.Semantic proximity Read ↗

[Family analysis of a child with Short-rib polydactyly syndrome type III due to variant of DYNC2H1 gene].Semantic proximity Read ↗

DYNC2H1 splicing variants causing severe prenatal short-rib polydactyly syndrome and postnatal orofaciodigital syndrome.Semantic proximity Read ↗

Genetic testing and diagnostic strategies of fetal skeletal dysplasia: a preliminary study in Wu Han, China Semantic proximity Read ↗

Genetic testing and diagnostic strategies of fetal skeletal dysplasia: a preliminary study in Wuhan, ChinaSemantic proximity Read ↗

Whole Exome Sequencing Aids The Diagnosis of Fetal Skeletal DysplasiaSemantic proximity Read ↗

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