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

[Analysis of clinical phenotypes and genetic variations in a Chinese family affected with craniofacial and skeletal deformities].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Dec 2016

Sun Huihui, Wan Naijun

Abstract excerpt

OBJECTIVE: To identify pathogenic mutation in a pedigree affected with craniofacial and skeletal abnormalities featuring an autosomal dominant inheritance. METHODS: Clinical data and peripheral venous blood samples of the pedigree were collected. A total of 326 exons of skeletal disease-related genes were screened using Roche NimbleGen probes, and the results were confirmed by Sanger sequencing. Suspected...

Read the complete abstract on PubMed

Topics

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

Share to Asian People
Share to Craniofacial Abnormalities

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to HDAC4 gene

Share to Genetic Testing

Share to Heterozygote

Share to Infant

Share to Mutation

Share to Pedigree

Source

Identifiers

PMID: 27984602
DOI: 10.3760/cma.j.issn.1003-9406.2016.06.005

Genes

HDAC4
TRPS1
ERCC2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

[Analysis of clinical phenotypes and genetic variations in a Chinese family affected with craniofacial and skeletal deformities].PMID 27984602Read ↗

[Clinical and genetic analysis of a Chinese pedigree affected with Smith-Lemli-Opitz syndrome].Semantic proximity Read ↗

[Analysis of clinical phenotype and genetic variant in a Chinese pedigree affected with cleidocranial dysplasia].Semantic proximity Read ↗

TRPS1 mutation detection in Chinese patients with Tricho-rhino-phalangeal syndrome and identification of four novel mutations.Semantic proximity Read ↗

[Ritscher-Schinzel syndrome caused by CCDC22 gene mutation: a case report].Semantic proximity Read ↗

[Clinical features and genetic testing of a Chinese pedigree affected with Smith-Lemli-Opitz syndrome].Semantic proximity Read ↗

[Analysis of phenotype and pathogenic variants in a Chinese pedigree affected with Multiple synostoses syndrome type 1].Semantic proximity Read ↗

[Analysis of RUNX2 gene variant in a Chinese patient with cleidocranial dysplasia].Semantic proximity Read ↗

Identification of a novel mutation in the FGFR3 gene in a Chinese family with Hypochondroplasia.Semantic proximity Read ↗

X-exome sequencing identifies a HDAC8 variant in a large pedigree with X-linked intellectual disability, truncal obesity, gynaecomastia, hypogonadism and unusual face.Semantic proximity Read ↗

[Clinical and genetic analysis of a novel CHD4 gene variant in a Chinese patient with Sifrim-Hitz-Weiss syndrome].Semantic proximity Read ↗

[Genetic analysis and prenatal diagnosis for a Chinese pedigree affected with Bainbridge-Ropers syndrome].Semantic proximity Read ↗

[Analysis of genotypes and phenotypes of three children with Cornelia de Lange syndrome].Semantic proximity Read ↗

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