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Paper Details

Ehlers-Danlos Syndrome Caused by Biallelic TNXB Variants in Patients with Congenital Adrenal Hyperplasia.
Hum Mutat
31
2016
-, -X CH-2, 21-hydroxylase, CAH, CAH-X, CAH-X CH-3, CYP21A2, Congenital Adrenal Hyperplasia, EDS, Ehlers-Danlos Syndrome, Patients, TNXB, TNXB Variants, TNXB exon, TNXB exon 35, TNXB exon 35 120-bp deletion, TNXB variant, TNXB variants, X CH-, aldosterone, autosomal-recessive congenital adrenal hyperplasia, c.12174C, cortisol, haploinsufficiency, hypermobility type Ehlers-Danlos syndrome, patients, tenascin-X
Author NameAffiliation
Jennifer L DreilingNational Cancer Institute
Jennifer L DreilingNational Cancer Institute
Markus-Frederik BohnDepartment of Pharmaceutical Chemistry, University of California San Francisco
Martha QuezadoNational Cancer Institute
Martha QuezadoNational Cancer Institute
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Release 1.2