Molecular characterization of the new clinical entity associated with congenital adrenal hyperplasia: the CAH-X syndrome in the Spanish population

Molecular characterization of the new clinical entity associated with congenital adrenal hyperplasia: the CAH-X syndrome in the Spanish population

The chimeras causing the CAH-X syndrome (SCAH-X) result from recombination between CYP21A2-TNXB and their respective pseudogenes (CYP21A1P-TNXA). The clinical manifestations of this syndrome include congenital adrenal hyperplasia (CAH) and Ehlers–Danlos syndrome (EDS). Since SCAH-X has been recently...

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Bibliographic Details
Main Authors: Figueras Laura Martínez, Pacheco Rafael Muñoz, González Dolores García, Domènech María Arriba, Zubicaray Begoña Ezquieta
Format: Article
Language:English
Published: De Gruyter 2023-08-01
Series:Advances in Laboratory Medicine
Subjects:
cah-x syndrome
congenital adrenal hyperplasia
cyp21a2
hypermobility-type ehlers–danlos syndrome
tenascin
tnxb
Online Access:https://doi.org/10.1515/almed-2023-0071

Internet

https://doi.org/10.1515/almed-2023-0071

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