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group of syndromes caused by inherited defects in cortisol and/or aldosterone biosynthesis; ACTH elevation is caused by low levels of cortisol, whose production is impaired by absence or deficiency of one of the five enzymes necessary for its synthesis from cholesterol.

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Individual Studies
  • Mouse Phenotypes - Autosomal recessive hereditary disorder

    Mus musculus Mus musculus | Mutations/Phenotypic   Mutations/Phenotypic

    This study contains curated mouse gene mutation data extracted from the Mouse Genome Database (MGD) at The Jackson Laboratory, Bar Harbor, Maine. Additional computational processing and curation of mouse phenotype data was performed to further organize and group data from related phenotypes into uni…

    Source: NextBio Library/Mutation and Phenotypic data

  • Endometrial hyperplasia and carcinoma

    Mus musculus Mus musculus | RNA Expression   RNA Expression

    Using mouse models of endometrial tumorigenesis based on two of the most common molecular alterations found in primary human UEC we sought to characterize the transition from CAH to carcinoma to identify clinically useful biomarkers. In order to identify novel candidate genes associated with invasio…

    Authors: Wang Hong, Ellenson Lora

    Organization: Weill Medical College of Cornell Univers…

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Thought leaders and organizations working on research involving congenital adrenal hyperplasia.

  • Gerard S Conway
  • Maria I New
  • Saroj Nimkarn
  • Deborah P Merke
  • Melissa Hines
  • University Magna Graecia
  • Eunice Kennedy Shriver National Institute of Child Health and Human De…
  • Office of Rare Diseases (ORD)
  • Mansoura University
  • National Institute of Mental Health (NIMH)
  • Mount Sinai School of Medicine
  • City University
  • Radboud University Nijmegen Medical Centre
  • National Institute of Mental Health
  • University of Birmingham

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