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Ehlers-Danlos Syndrome: Molecular and Clinical Characterization of TNXA/TNXB Chimeras in Congenital Adrenal Hyperplasia
(Oxford University Press, 2021-07)
Context: The syndrome CAH-X is due to a contiguous gene deletion of CYP21A2 and TNXB resulting in TNXA/TNXB chimeras. Objective: To analyze TNXB gene status and to clinically evaluate the Ehlers-Danlos syndrome phenotype ...