Unusual Combination of MEN-1 and the Contiguous Gene Deletion Syndrome of CAH and Ehlers-Danlos Syndrome (CAH-X)

The contiguous gene deletion syndrome of congenital adrenal hyperplasia and Ehlers-Danlos syndrome, named CAH-X, is a rare entity that occurs because of a deletion of a chromosomal area containing 2 neighboring genes, TNXB and CYP21A. Here, we describe a patient from a consanguineous family in which...

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Detalles Bibliográficos
Autores principales: Chen Cardenas, Stanley M, El-Kaissi, Samer, Jarad, Ola, Liaqat, Muneezeh, Korbonits, Márta, Hamrahian, Amir H
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2020
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7371387/
https://www.ncbi.nlm.nih.gov/pubmed/32715272
http://dx.doi.org/10.1210/jendso/bvaa077

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