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 and genetic analysis of a patient with short stature due to variant of RPL13 gene].

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

Wen Hanying, Wu Ke, Shu Qingqing, He Xin, Xue Qingxia

Abstract excerpt

OBJECTIVE: To analyze the clinical phenotype and genetic characteristics of a patient with Isidor-Toutain spinal epiphyseal dysplasia (SEMD) due to variant of RPL13 gene. METHODS: A pregnant woman at 18 weeks of gestation who had presented at Quzhou Maternal and Child Health Care Hospital on January 14, 2023 was selected as the study subject. Whole exome sequencing (WES) was carried out for the patient, and...

Read the complete abstract on PubMed

Topics

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

Share to Dwarfism
Share to Exome Sequencing

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic Testing

Share to Mutation, Missense

Share to Osteochondrodysplasias

Share to Phenotype

Share to Pregnancy

Share to Ribosomal Proteins

Source

Identifiers

PMID: 38684306
DOI: 10.3760/cma.j.cn511374-20220329-00173

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

[Clinical and genetic analysis of a patient with short stature due to variant of RPL13 gene].PMID 38684306Read ↗

[Clinical phenotype and genetic analysis of a child featuring short stature and multiple skeletal dysplasia].Semantic proximity Read ↗

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

Expanding the phenotypic spectrum of RPL13-related skeletal dysplasia.Semantic proximity Read ↗

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

[Prenatal phenotype and genetic analysis of a fetus with Fibrochondrogenesis 1 due to compound heterozygous variants of COL11A1 gene].Semantic proximity Read ↗

Clinical and genetic investigation of 14 families with various forms of short stature syndromes.Semantic proximity Read ↗

[Genetic analysis of a fetus with Rhizomelic skeletal dysplasia].Semantic proximity Read ↗

Application of whole-exome sequencing technology in clarifying 269 cases of fetal skeletal system disordersSemantic proximity Read ↗

Analysis of Correlation Between Whole Exome Sequencing and Ultrasound Examinationin Prenatal Diagnosis of Fetal Skeletal Dysplasia Semantic proximity Read ↗

Clinical relevance of targeted exome sequencing in patients with rare syndromic short stature.Semantic proximity Read ↗

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

[Analysis of clinical manifestation and genetic mutation in a child with X-linked chondrodysplasia punctata 2].Semantic proximity Read ↗

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