Broadening the Spectrum of Ehlers Danlos Syndrome in Patients With Congenital Adrenal Hyperplasia

CONTEXT: The contiguous gene deletion syndrome (CAH-X) was described in a subset (7%) of congenital adrenal hyperplasia (CAH) patients with a TNXA/TNXB chimera, resulting in deletions of CYP21A2, encoding 21-hydroxylase necessary for cortisol biosynthesis, and TNXB, encoding the extracellular matrix...

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Detalhes bibliográficos
Publicado no:J Clin Endocrinol Metab
Main Authors: Morissette, Rachel, Chen, Wuyan, Perritt, Ashley F., Dreiling, Jennifer L., Arai, Andrew E., Sachdev, Vandana, Hannoush, Hwaida, Mallappa, Ashwini, Xu, Zhi, McDonnell, Nazli B., Quezado, Martha, Merke, Deborah P.
Formato: Artigo
Idioma:Inglês
Publicado em: Endocrine Society 2015
Assuntos:
JCEM Online: Advances in Genetics
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4525000/
https://ncbi.nlm.nih.gov/pubmed/26075496
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/jc.2015-2232
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