A feasibility study of noninvasive prenatal diagnosis in facioscapulohumeral muscular dystrophy type 1 in a chinese family

HIGHLIGHTS

• who: . and colleagues from the Hospital Clinic of Barcelona, Spain University, China have published the research work: A feasibility study of noninvasive prenatal diagnosis in facioscapulohumeral muscular dystrophy type 1 in a Chinese family, in the Journal: (JOURNAL)
• what: The authors reported a case of Chinese family with typical symptoms of FSHD. The work provides an earlier and safer solution for the prenatal diagnosis of FSHD1 in families with FSHD1 genetic history.
• how: These results indicated that fetus was predicted to be a carrier of the retracted D4Z4 repeat number mutation. This result . . .
  

   

  

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