• Mutations in CYP11B1 gene: phenotype-genotype correlations 

      Zhu, Yuan-Shan; Cordero, Juan J; Can, Selcuk; Cai, Li-Qun; You, Xueke; Herrera, Cecilia; Defilló-Ricart, Mariano; Shackleton, Cedric; Imperato-McGinley, Julianne (Am J Med Genet A ., 2003-10)
      11beta-hydroxylase deficiency, an autosomal recessive disorder, is the second most common cause of congenital adrenal hyperplasia. We studied four subjects with classic 11beta-hydroxylase deficiency and severe hypertension: ...