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

CAH-X Syndrome: Genetic and Clinical Profile.

Molecular diagnosis & therapy - 1 May 2022

Concolino Paola, Falhammar Henrik

Abstract excerpt

The term CAH-X was coined to describe a subset of patients with 21-hydroxylase deficiency displaying a phenotype compatible with the hypermobility type of Ehlers Danlos syndrome. The genetic defect is due to the monoallelic presence of a CYP21A2 deletion extending into the gene encoding tenascin X (TNXB), a connective tissue extracellular matrix protein. The result is a chimeric TNXA/TNXB gene causing tenascin-X...

Read the complete abstract on PubMed

Topics

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

Share to Steroid 21-Hydroxylase
Share to Tenascin
Share to Adrenal Hyperplasia, Congenital

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Ehlers-Danlos Syndrome

Share to Mutation

Source

Identifiers

PMID: 35476220
DOI: 10.1007/s40291-022-00588-0

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

CAH-X Syndrome: Genetic and Clinical Profile.PMID 35476220Read ↗

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

Novel cardiac abnormalities observed in CAH patients with tenascin-X haploinsufficiency.Semantic proximity Read ↗

Tenascin-X, Congenital Adrenal Hyperplasia, and the CAH-X Syndrome.Semantic proximity Read ↗

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

Congenital adrenal hyperplasia with a CYP21A2 deletion overlapping the tenascin-X gene: an atypical presentation.Semantic proximity Read ↗

Tenascin-X haploinsufficiency associated with Ehlers-Danlos syndrome in patients with congenital adrenal hyperplasia.Semantic proximity Read ↗

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

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

Tenascin-X deficiency is associated with Ehlers-Danlos syndrome.Semantic proximity Read ↗

Broadening the Spectrum of Ehlers Danlos Syndrome in Patients With Congenital Adrenal Hyperplasia.Semantic proximity Read ↗

Ehlers-Danlos Syndrome Caused by Biallelic TNXB Variants in Patients with 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 ↗

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