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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease hypospadias
Comorbidity C0001623|adrenal insufficiency
Sentences 1
PubMedID- 22968487 Herein, we present a case of delayed diagnosis of adrenal insufficiency in a patient with penoscrotal hypospadias caused by two novel cyp11a1 mutations, p.r360w and p.r405x.

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