[De novo I172N mutation in a patient with 21-hydroxilase deficiency].
Díez López
I
I
Rodríguez Estevez
A
A
González Molina
E
E
Ezquieta Zubicaray
B
B
D000312:Adrenal Hyperplasia, Congenital / Q000235:genetics*; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D009154:Mutation; D010375:Pedigree