Genetic analysis and prenatal diagnosis of short-rib thoracic dysplasia 3 with or without polydactyly caused by compound heterozygous variants of dync2h1 gene in four chinese families

HIGHLIGHTS

• who: March and colleagues from the Indian Institute of Integrative Medicine have published the paper: Genetic analysis and prenatal diagnosis of short-rib thoracic dysplasia 3 with or without polydactyly caused by compound heterozygous variants of DYNC2H1 gene in four Chinese families, in the Journal: (JOURNAL)
• what: The authors analyzed gene mutations in four SRTD3 fetuses by WES and determined that the compound heterozygous mutation of DYNC2H1 was the causative mutation of SRTD3. This study built the genetic diagnosis on four families affected with SRTD3 by WES analysis, and identified eight DYNC2H1 variants, which expanded . . .
  

   

  

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