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ACTH-independent macronodular adrenal hyperplasia 2

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Description

ACTH-independent macronodular adrenal hyperplasia-2 is an autosomal dominant tumor susceptibility with syndromic incomplete penetrance, as a second hit to the ARMC5 gene is required to develop macronodular hyperplasia (Assie et al., 2013).

OMIM

  • Mode of Inheritance

  • Autosomal dominant inheritance
  • Somatic mutation

VARIANTS

8

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Genes

External Links

  • OMIM

    615954

  • Orphanet
  • HPO
  • Medgen

    C4014803

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