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

Broadening the Spectrum of Ehlers Danlos Syndrome in Patients With Congenital Adrenal Hyperplasia.

The Journal of clinical endocrinology and metabolism - 1 Aug 2015

Morissette Rachel, Chen Wuyan, Perritt Ashley F, Dreiling Jennifer L, Arai Andrew E, Sachdev Vandana, Hannoush Hwaida, Mallappa Ashwini, Xu Zhi, McDonnell Nazli B, Quezado Martha, Merke Deborah P

Abstract excerpt

CONTEXT: The contiguous gene deletion syndrome (CAH-X) was described in a subset (7%) of congenital adrenal hyperplasia (CAH) patients with a TNXA/TNXB chimera, resulting in deletions of CYP21A2, encoding 21-hydroxylase necessary for cortisol biosynthesis, and TNXB, encoding the extracellular matrix glycoprotein tenascin-X (TNX). This TNXA/TNXB chimera is characterized by a 120-bp deletion in exon 35 and results...

Read the complete abstract on PubMed

Topics

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

Share to Adolescent
Share to Adrenal Hyperplasia, Congenital

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Child, Preschool

Share to Cohort Studies

Share to Ehlers-Danlos Syndrome

Share to Infant

Share to Young Adult

Source

Open in PubMed Open full text

Identifiers

PMID: 26075496
DOI: 10.1210/jc.2015-2232
PMCID: PMC4525000

Genes

TNXB

Variants

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

Broadening the Spectrum of Ehlers Danlos Syndrome in Patients With Congenital Adrenal Hyperplasia.PMID 26075496Read ↗

Ehlers-Danlos Syndrome Caused by Biallelic TNXB Variants in Patients with Congenital Adrenal Hyperplasia.Semantic proximity Read ↗

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

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

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

A TNXB splice donor site variant as a cause of hypermobility type Ehlers-Danlos syndrome in patients with congenital adrenal hyperplasia.Semantic proximity Read ↗

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

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

Measurement of serum tenascin-X in patients with congenital adrenal hyperplasia at risk for Ehlers-Danlos contiguous gene deletion syndrome CAH-X.Semantic proximity Read ↗

The phenotypic spectrum of contiguous deletion of CYP21A2 and tenascin XB: quadricuspid aortic valve and other midline defects.Semantic proximity Read ↗

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

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

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

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