Novel nonsense mutation (W22X) in CYP21A2 gene causing salt-wasting congenital adrenal hyperplasia in a compound heterozygous girl.

Di Pasquale, L

Novel nonsense mutation (W22X) in CYP21A2 gene causing salt-wasting congenital adrenal hyperplasia in a compound heterozygous girl. [electronic resource] - Journal of endocrinological investigation Oct 2007 - 806-7 p. digital

Publication Type: Case Reports; Letter

1720-8386

10.1007/BF03350823 doi


Adrenal Hyperplasia, Congenital--diagnosis
Codon, Nonsense--genetics
Female
Heterozygote
Humans
Infant, Newborn
Phenotype
Steroid 21-Hydroxylase--genetics