TY  - GEN
AU  - Di Pasquale,L
AU  - Indovina,S
AU  - Wasniewska,M
AU  - Mirabelli,S
AU  - Porcelli,P
AU  - Rulli,I
AU  - Salzano,G
AU  - De Luca,F
TI  - Novel nonsense mutation (W22X) in CYP21A2 gene causing salt-wasting congenital adrenal hyperplasia in a compound heterozygous girl
SN  - 1720-8386
PY  - 2008///0205
KW  - Adrenal Hyperplasia, Congenital
KW  - diagnosis
KW  - Codon, Nonsense
KW  - genetics
KW  - Female
KW  - Heterozygote
KW  - Humans
KW  - Infant, Newborn
KW  - Phenotype
KW  - Steroid 21-Hydroxylase
N1  - Publication Type: Case Reports; Letter
UR  - https://doi.org/10.1007/BF03350823
ER  -