Di Pasquale, L <br/><br/>
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 
<br/><br/> Publication Type: Case Reports; Letter 
<br/><br/><label>ISSN: </label>1720-8386 
<br/><br/><label>Standard No.: </label>10.1007/BF03350823  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adrenal Hyperplasia, Congenital--diagnosis<br/>Codon, Nonsense--genetics<br/>Female<br/>Heterozygote<br/>Humans<br/>Infant, Newborn<br/>Phenotype<br/>Steroid 21-Hydroxylase--genetics