Prenatal and postnatal diagnosis of phelan mcdermid syndrome: a report of 21 cases from a medical center and review of the literature

HIGHLIGHTS

  • who: Phelan-McDermid syndrome (P and colleagues from the Zhejiang, China have published the paper: Prenatal and postnatal diagnosis of Phelan McDermid syndrome: A report of 21 cases from a medical center and review of the literature, in the Journal: (JOURNAL)
  • what: This is the first detailed report of the prenatal and postnatal diagnosis of PMS at a single Chinese medical center.
  • future: The larger sample sizes and more detailed studies are needed for further clinical presentations. More clinical cases and further functional research are needed to establish precisive genotype-phenotype correlations for . . .

     

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