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

High-Throughput Screening for CYP21A1P-TNXA/TNXB Chimeric Genes Responsible for Ehlers-Danlos Syndrome in Patients with Congenital Adrenal Hyperplasia

21 Jun 2019

Abstract excerpt

No abstract is available from the source.

Read the complete abstract on PubMed

Topics

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

Share to Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
Share to Sexual Differentiation and Disorders
Share to Urological Disorders and Treatments

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

Source

Identifiers

PMID: 31229653
DOI: 10.1016/j.jmoldx.2019.06.001

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 10 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

High-Throughput Screening for CYP21A1P-TNXA/TNXB Chimeric Genes Responsible for Ehlers-Danlos Syndrome in Patients with Congenital Adrenal HyperplasiaPMID 31229653Read ↗

Chimeric CYP21A1P/CYP21A2 genes identified in Czech patients with congenital adrenal hyperplasiaSemantic proximity Read ↗

Congenital Adrenal Hyperplasia and Ehlers-Danlos Syndrome.Semantic proximity Read ↗

Molecular genetic testing of congenital adrenal hyperplasia due to 21-hydroxylase deficiency should include CAH-X chimerasSemantic proximity Read ↗

Ehlers-Danlos Syndrome: Molecular and Clinical Characterization of TNXA/TNXB Chimeras in Congenital Adrenal Hyperplasia.Semantic proximity Read ↗

The Prevalence of the Chimeric TNXA/TNXB Gene and Clinical Symptoms of Ehlers-Danlos Syndrome with 21-Hydroxylase Deficiency.Semantic proximity Read ↗

Molecular basis and genetic testing strategies for diagnosing 21-hydroxylase deficiency, including CAH-X syndromeSemantic proximity Read ↗

Prevalence of CAH-X Syndrome in Italian Patients with Congenital Adrenal Hyperplasia (CAH) Due to 21-Hydroxylase DeficiencySemantic proximity Read ↗

Genetic characterization and screening of congenital adrenal hyperplasia by long-read sequencing in a cohort of 21,239 newborns.Semantic proximity Read ↗

Identification of novel and rare CYP21A2 variants in Chinese patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiencySemantic proximity Read ↗

Compound heterozygosity of a novel Q73X mutation and a known R141X mutation in CYP11B1 resulting in 11β-hydroxylase deficiency in a Chinese boy with congenital adrenal hyperplasia.Semantic proximity Read ↗

Targeted long-read sequencing identifies missing pathogenic variant in unsolved 11β-hydroxylase deficiencySemantic proximity Read ↗

Genetic profiling of CAH Egyptian children: rapid guide to clinical interpretation of common mutations.Semantic proximity Read ↗

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