Case report: cystic hygroma accompanied with campomelic dysplasia in the fi rst trimester caused by haploinsuf fi ciency with sox9 deletion

HIGHLIGHTS

• who: August and colleagues from the Emory University, United States have published the paper: Case report: Cystic hygroma accompanied with campomelic dysplasia in the fi rst trimester caused by haploinsuf fi ciency with SOX9 deletion, in the Journal: (JOURNAL)
• what: The authors propose a comprehensive prenatal diagnostic strategy that combines CMA and WES to diagnose fetuses with cystic hygroma accompanied by skeletal dysplasia. The authors report an individual with cystic hygroma accompanied by CD in the first trimester and confirm that such a phenotype resulted from SOX9 deletion. using BWA (v0.7.15).
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