Article
Genetic screening of children with suspected inherited bleeding disorders.
Haemophilia : the official journal of the World Federation of Hemophilia - 1 Mar 2020
Andersson Nadine G, Rossing Maria, Fager Ferrari Marcus, Gabrielaite Migle, Leinøe Eva, Ljung Rolf, Mårtensson Annika, Norström Eva, Zetterberg Eva
Abstract excerpt
INTRODUCTION: Genetic screening using high-throughput DNA sequencing has become a tool in diagnosing patients with suspected inherited bleeding disorders (IBD). However, its usefulness and diagnostic efficacy in children is unclear. AIM: To evaluate the diagnostic efficacy of genetic screening for IBD in children and downstream further testing. METHODS: After informed consent, children (<18 years) with suspected...
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