1.
Clin Case Rep
; 6(11): 2092-2095, 2018 Nov.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30455898
RESUMO
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.