Salt wasting phenotype in a compound heterozygous girl with P482S mutation associated with anovel mutation of CYP21 gene (Q481P).
Di Pasquale
G
G
Wasniewska
M
M
Caruso
M
M
Salzano
G
G
Coco
M
M
Lombardo
F
F
De Luca
F
F
D000312:Adrenal Hyperplasia, Congenital / Q000201:enzymology / Q000235:genetics*; D005260:Female; D006579:Heterozygote; D006801:Humans; D007231:Infant, Newborn; D009154:Mutation / Q000235:genetics*; D010641:Phenotype; D012965:Sodium Chloride / Q000378:metabolism; D013255:Steroid 21-Hydroxylase / Q000235:genetics*
D012965:Sodium Chloride; D013255:Steroid 21-Hydroxylase