Clinical relevance of systematic phenotyping and exome sequencing in patients with short stature.

doi:10.1038/gim.2017.159

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

Community

Back to search

Article

Clinical relevance of systematic phenotyping and exome sequencing in patients with short stature.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Jun 2018

Hauer Nadine N, Popp Bernt, Schoeller Eva, Schuhmann Sarah, Heath Karen E, Hisado-Oliva Alfonso, Klinger Patricia, Kraus Cornelia, Trautmann Udo, Zenker Martin, Zweier Christiane, Wiesener Antje, Abou Jamra Rami, Kunstmann Erdmute, Wieczorek Dagmar, Uebe Steffen, Ferrazzi Fulvia, Büttner Christian, Ekici Arif B, Rauch Anita, Sticht Heinrich, Dörr Helmuth-Günther, Reis André, Thiel Christian T

Abstract excerpt

PurposeShort stature is a common condition of great concern to patients and their families. Mostly genetic in origin, the underlying cause often remains elusive due to clinical and genetic heterogeneity.MethodsWe systematically phenotyped 565 patients where common nongenetic causes of short stature were excluded, selected 200 representative patients for whole-exome sequencing, and analyzed the identified variants...

Read the complete abstract on PubMed

Topics

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

Share to Body Height

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Exome Sequencing

Share to Genetic Testing

Share to Heterozygote

Share to High-Throughput Nucleotide Sequencing

Share to Pedigree

Share to Phenotype

Share to Sequence Analysis, DNA

Source

Open in PubMed Open full text

Identifiers

PMID: 29758562
DOI: 10.1038/gim.2017.159
PMCID: PMC5993671

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Clinical relevance of systematic phenotyping and exome sequencing in patients with short stature.PMID 29758562Read ↗

Diagnostic Whole Exome Sequencing in Patients with Short StatureSemantic proximity Read ↗

Whole Exome Sequencing in Idiopathic Short Stature: rare mutations affecting growthSemantic proximity Read ↗

Whole Exome Sequencing in Idiopathic Short Stature: Rare Mutations Affecting GrowthSemantic proximity Read ↗

A genetic approach to evaluation of short stature of undetermined cause.Semantic proximity Read ↗

Exome sequencing reveals genetic architecture in patients with isolated or syndromic short stature.Semantic proximity Read ↗

Diagnostic yield of a multigene sequencing approach in children classified as idiopathic short statureSemantic proximity Read ↗

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

Approach to the Patient With Short Stature: Genetic Testing.Semantic proximity Read ↗

Novel Mutations and Genes That Impact on Growth in Short Stature of Undefined Aetiology: The EPIGROW StudySemantic proximity Read ↗

New developments in the genetic diagnosis of short stature.Semantic proximity Read ↗

ACMG practice guideline: genetic evaluation of short stature.Semantic proximity Read ↗

Diagnostic yield of genetic testing in children with short stature: a systematic review.Semantic proximity Read ↗

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