A case for expanding carrier testing to include actionable X-linked disorders.
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ABSTRACT:
SUBMITTER: Rope AF
PROVIDER: S-EPMC6230667 | biostudies-literature | 2018 Nov
REPOSITORIES: biostudies-literature
Publications
A case for expanding carrier testing to include actionable X-linked disorders.
Rope Alan F AF Kauffman Tia L TL Himes Pat P Amendola Laura M LM Punj Sumit S Akkari Yassmine Y Potter Amiee A Davis James V JV Schneider Jennifer L JL Reiss Jacob A JA Gilmore Mari J MJ McMullen Carmit K CK Nickerson Deborah A DA Richards C Sue CS Jarvik Gail P GP Wilfond Benjamin S BS Goddard Katrina A B KAB
Clinical case reports 20180919 11
A research study utilizing whole-genome sequence analysis for preconception carrier screening provided a genome-first detection of a severe de novo Factor VIII 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. ...[more]
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