Novel variants of associated with neonatal arthrogryposis: two case reports and a literature review

HIGHLIGHTS

  • who: . and colleagues from the ApconiX, United Kingdom University, China have published the Article: Novel variants of associated with neonatal arthrogryposis: Two case reports and a literature review, in the Journal: (JOURNAL)
  • what: The authors reported two unrelated neonates from nonconsanguineous families with healthy parents.

SUMMARY

    Normal plasma amino_acid and urinary orotic acid levels were demonstrated. The prevalence of arthrogryposis is 1 in 3,000 live births (Bamshad et_al, 2009; Kowalczyk et_al, 2016; Fahy and Hall, 1990). NEK9 encodes a member of the NIMA family of serine/ threonine protein_kinases, which is . . .

     

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