Article

Prevalence of CAH-X Syndrome in Italian Patients with Congenital Adrenal Hyperplasia (CAH) Due to 21-Hydroxylase Deficiency

2022-06-24

Abstract excerpt

21-hydroxylase deficiency (21OHD), the most common form of congenital adrenal hyperplasia (CAH), is associated with pathogenic variants in CYP21A2 gene. The clinical form of the disease ranges from classic or severe to non-classic (NC) or mild late onset. The CYP21A2 gene is located on the long arm of chromosome 6, within the RCCX region, one of the most complex loci in the human genome. The 3’untranslated s...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: d76475c4-e03c-579a-a7c7-92e748976378
DOI: 10.20944/preprints202206.0329.v1

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Prevalence of CAH-X Syndrome in Italian Patients with Congenital Adrenal Hyperplasia (CAH) Due to 21-Hydroxylase DeficiencyDOI 10.20944/preprints202206.0329.v1Read

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

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

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

Congenital adrenal hyperplasia: focus on the molecular basis of 21-hydroxylase deficiency.Semantic proximity Read

CAH-X Syndrome: Genetic and Clinical Profile.Semantic proximity Read

Salt-wasting congenital adrenal hyperplasia phenotype as a result of the TNXA/TNXB chimera 1 (CAH-X CH-1) and the pathogenic IVS2-13A/C > G in CYP21A2 gene.Semantic proximity Read

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

Genes and Pseudogenes: Complexity of the RCCX Locus and Disease.Semantic proximity Read

Broadening the Spectrum of Ehlers Danlos Syndrome 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

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

Genetic Characterization of a Cohort of Italian Patients with Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency.Semantic proximity Read