> Details

Rope, Alan F.; Kauffman, Tia L.; Himes, Pat; Amendola, Laura M.; Punj, Sumit; Akkari, Yassmine; Potter, Amiee; Davis, James V.; Schneider, Jennifer L.; Reiss, Jacob A.; Gilmore, Mari J.; McMullen, Carmit K.; Nickerson, Deborah A.; Richards, C. Sue; Jarvik, Gail P.; Wilfond, Benjamin S.; Goddard, Katrina A. B.

A case for expanding carrier testing to include actionable X‐linked disorders

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  • Media type: E-Article
  • Title: A case for expanding carrier testing to include actionable X‐linked disorders
  • Contributor: Rope, Alan F.; Kauffman, Tia L.; Himes, Pat; Amendola, Laura M.; Punj, Sumit; Akkari, Yassmine; Potter, Amiee; Davis, James V.; Schneider, Jennifer L.; Reiss, Jacob A.; Gilmore, Mari J.; McMullen, Carmit K.; Nickerson, Deborah A.; Richards, C. Sue; Jarvik, Gail P.; Wilfond, Benjamin S.; Goddard, Katrina A. B.
  • imprint: Wiley, 2018
  • Published in: Clinical Case Reports
  • Language: English
  • DOI: 10.1002/ccr3.1806
  • ISSN: 2050-0904
  • Keywords: General Medicine
  • Origination:
  • Footnote:
  • Description: <jats:title>Key Clinical Message</jats:title><jats:p>A research study utilizing whole‐genome sequence analysis for preconception carrier screening provided a genome‐first detection of a severe de novo Factor <jats:styled-content style="fixed-case">VIII</jats:styled-content> mutation in a woman with implications for pregnancy management and life‐saving interventions of her newborn son, and a challenge to the existing paradigm regarding carrier testing.</jats:p>
  • Access State: Open Access