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

Gene screening facilitates diagnosis of complicated symptoms: A case report.

Molecular medicine reports - 1 Dec 2017

Duan Hong, Zhang Di, Cheng Jing, Lu Yu, Yuan Huijun

Abstract excerpt

Gene mutation has an important role in disease pathogenesis; therefore, genetic screening is a useful tool for diagnosis. The present study screened pathogenic genes, ectodysplasin A (EDA) and lamin A/C (LMNA), in a patient with suspected syndromic hearing impairment and various other symptoms including tooth and skin abnormalities. Large‑scale sequencing of 438 deafness‑associated genes and whole‑genome...

Read the complete abstract on PubMed

Topics

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

Share to Child, Preschool
Share to Genetic Association Studies
Share to Genetic Testing

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Lamin Type A

Share to Progeria

Share to Sequence Analysis, DNA

Share to Syndrome

Source

Open in PubMed Open full text

Identifiers

PMID: 28944914
DOI: 10.3892/mmr.2017.7590
PMCID: PMC5779872

Genes

EDA
CRYM
LMNA

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

Gene screening facilitates diagnosis of complicated symptoms: A case report.PMID 28944914Read ↗

Gene Mutations of the Three Ectodysplasin Pathway Key Players (EDA, EDAR, and EDARADD) Account for More than 60% of Egyptian Ectodermal Dysplasia: A Report of Seven Novel Mutations.Semantic proximity Read ↗

A targeted next-generation sequencing assay for the molecular diagnosis of genetic disorders with orodental involvement.Semantic proximity Read ↗

Targeted molecular investigation in patients within the clinical spectrum of Auriculocondylar syndrome.Semantic proximity Read ↗

Phenotypic spectrum of Au-Kline syndrome: a report of six new cases and review of the literature.Semantic proximity Read ↗

A pilot study of gene testing of genetic bone dysplasia using targeted next-generation sequencing.Semantic proximity Read ↗

Mutations in WNT10A are frequently involved in oligodontia associated with minor signs of ectodermal dysplasia.Semantic proximity Read ↗

An Application of NGS for Molecular Investigations in Perrault Syndrome: Study of 14 Families and Review of the Literature.Semantic proximity Read ↗

Genetic and Molecular Evaluation: Reporting Three Novel Mutations and Creating Awareness of Pycnodysostosis Disease.Semantic proximity Read ↗

Founder Pathogenic Variant in LMNA with Diverse Phenotypic Manifestations in Mandibuloacral Dysplasia: Insights from a Turkish CohortSemantic proximity Read ↗

Mutational spectrum of EDA, EDAR, EDARADD, and WNT10A genes in the largest cohort of Russian patients with hypohidrotic ectodermal dysplasia.Semantic proximity Read ↗

Identification of six novel mutations in EDA from 20 hypohidrotic ectodermal dysplasia families.Semantic proximity Read ↗

Cowden syndrome: new clinical features in a large family; joint hyperextensibility, dental abnormalities and gingival enlargement.Semantic proximity Read ↗

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