Severe early-onset manifestations of generalized arterial calcification of infancy (mimicking severe coarctation of the aorta) with abcc6 gene variant – case report and literature review

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• who: Amalia Fu00e3gu00e3ru00e3u015fan from the Clinique des Grangettes, Switzerland University of Miyazaki, Japan have published the article: Severe early-onset manifestations of generalized arterial calcification of infancy (mimicking severe coarctation of the aorta) with ABCC6 gene variant - Case report and literature review, in the Journal: (JOURNAL) of 20/Dec/2022
• what: The authors report the identification of a variant in ATP Binding Cassette Subfamily C, Member 6 (ABCC6) gene, possibly associated with severe early-onset manifestations of GACI. The authors report the case of an 18-day-old male newborn referred from the neonatal intensive . . .
  

   

  

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