CffDNA Screening for Niemann-pick Disease, Type C1: a Case Series

Sydney A. Lau, Romy I. Fawaz, Robert Rigobello, Shahad Bawazeer,Nouf M. Alajaji,Eissa Faqeih, Yanchun Li,Yanming Feng,Fan Xia,Christine M. Eng,Malak Abedalthagafi

FRONTIERS IN MEDICINE（2024）

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cffDNA screening,non-invasive prenatal testing,autosomal recessive conditions,Niemann-pick disease,monogenic disorders,prenatal diagnosis

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