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MON-177 CAH-X Syndrome in a German Cohort of Patients with Congenital Adrenal Hyperplasia

Congenital adrenal hyperplasia due to 21-hydroxylase deficiency (CAH) is encoded by the CYP21A2 gene. The CYP21A2 gene is flanked and partially overlapped by the TNXB gene encoding an extracellular matrix protein called Tenascin-X. Deficiency of Tenascin X can cause the Ehlers-Danlos Syndrome (EDS)....

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Detalles Bibliográficos
Autores principales:	Sappl, Andrea, Lottspeich, Christian, Vill, Katharina, Morak, Monika, Bidlingmaier, Martin, Reisch, Nicole
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Oxford University Press 2020
Materias:	Adrenal
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7207481/ http://dx.doi.org/10.1210/jendso/bvaa046.1671

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