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Article

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

The Journal of clinical endocrinology and metabolism - 16 Jun 2021

Marino Roxana, Garrido Natalia Perez, Ramirez Pablo, Notaristéfano Guillermo, Moresco Angélica, Touzon Maria Sol, Vaiani Elisa, Finkielstain Gabriela, Obregón María Gabriela, Balbi Viviana, Soria Ianina, Belgorosky Alicia

Abstract excerpt

CONTEXT: The syndrome CAH-X is due to a contiguous gene deletion of CYP21A2 and TNXB resulting in TNXA/TNXB chimeras. OBJECTIVE: To analyze TNXB gene status and to clinically evaluate the Ehlers-Danlos syndrome phenotype in a large cohort of Argentine congenital adrenal hyperplasia (CAH) patients to assess the prevalence of this condition in our population. METHODS: TNXB gene analysis was performed in 66...

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Identifiers

PMID: 33482002
DOI: 10.1210/clinem/dgab033

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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Ehlers-Danlos Syndrome: Molecular and Clinical Characterization of TNXA/TNXB Chimeras in Congenital Adrenal Hyperplasia.PMID 33482002Read ↗

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