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Maternal 21-hydroxylase deficiency and uniparental isodisomy of chromosome 6 and X results in a child with 21-hydroxylase deficiency and Klinefelter syndrome.

AuthorsElizabeth A Parker, Karine Hovanes, John Germak, Forbes Porter, Deborah P Merke
JournalAmerican journal of medical genetics. Part A (Am J Med Genet A) Vol. 140 Issue 20 Pg. 2236-40 (Oct 15 2006) ISSN: 1552-4825 [Print] United States
PMID16906568 (Publication Type: Journal Article)
Chemical References
  • Steroid 21-Hydroxylase
Topics
  • Adrenal Hyperplasia, Congenital (genetics)
  • Chromosomes, Human, Pair 6 (genetics)
  • Chromosomes, Human, X (genetics)
  • Humans
  • Karyotyping
  • Klinefelter Syndrome (genetics)
  • Male
  • Pedigree
  • Polymorphism, Restriction Fragment Length
  • Steroid 21-Hydroxylase (genetics)
  • Uniparental Disomy (genetics)

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