Novel nonsense mutation (W22X) in CYP21A2 gene causing salt-wasting congenital adrenal hyperplasia in a compound heterozygous girl.
Di Pasquale
L
L
Indovina
S
S
Wasniewska
M
M
Mirabelli
S
S
Porcelli
P
P
Rulli
I
I
Salzano
G
G
De Luca
F
F
D000312:Adrenal Hyperplasia, Congenital / Q000175:diagnosis / Q000235:genetics*; D018389:Codon, Nonsense / Q000235:genetics*; D005260:Female; D006579:Heterozygote; D006801:Humans; D007231:Infant, Newborn; D010641:Phenotype; D013255:Steroid 21-Hydroxylase / Q000235:genetics*
D018389:Codon, Nonsense; D013255:Steroid 21-Hydroxylase