Case report: prenatal diagnosis of ectrodactyly ectodermal dysplasia cleft syndrome (eec) in a fetus with cleft lip and polycystic kidney

HIGHLIGHTS

• who: October and colleagues from the Medical University of Warsaw, Poland have published the Article: Case report: Prenatal diagnosis of Ectrodactyly Ectodermal dysplasia Cleft syndrome (EEC) in a fetus with cleft lip and polycystic kidney, in the Journal: (JOURNAL)
• what: The authors report a fetus with cleft lip and palate and right polycystic kidney and identify a pathogenic variation of the TP63 gene by WES associated with EEC syndrome.
• how: Prenatal WES is very useful to find the true etiology when negative results are presented in karyotyping and CMA. dominant-negative effects of . . .
  

   

  

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