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High-Throughput Screening for CYP21A1P-TNXA/TNXB Chimeric Genes Responsible for Ehlers-Danlos Syndrome in Patients with Congenital Adrenal Hyperplasia

Many patients with congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency have CAH-X syndrome, a connective tissue dysplasia consistent with hypermobility-type Ehlers-Danlos syndrome due to a contiguous gene deletion involving the adjacent CYP21A2 and TNXB genes. CAH-X syndrome is cau...

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Detalhes bibliográficos
Publicado no:J Mol Diagn
Main Authors: Lao, Qizong, Brookner, Brittany, Merke, Deborah P.
Formato: Artigo
Idioma:Inglês
Publicado em: American Society for Investigative Pathology 2019
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6734858/
https://ncbi.nlm.nih.gov/pubmed/31229653
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.jmoldx.2019.06.001
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