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Congenital adrenal hypoplasia
- ... hypoplasia congenita X-linked AHC Genetic Testing Registry: Congenital adrenal hypoplasia, X-linked X-linked adrenal hypoplasia congenita National ... 10.1007/BF02760584. Citation on PubMed Tabarin A. Congenital adrenal hypoplasia and DAX-1 gene mutations. Ann Endocrinol (Paris). ...
- ... the NR0B1 gene have been found to cause X-linked adrenal hypoplasia congenita. This condition affects the development of the adrenal ... of DAX1.Most of the variants responsible for X-linked adrenal hypoplasia congenita prevent the NR0B1 gene from producing any active ...