Case report: functional characterization of a a p.val49met pathogenic variant in a case of piga-cdg with megacolon

HIGHLIGHTS

• who: PIGA and colleagues from the University of Barcelona, Spain have published the Article: Case report: Functional characterization of a A p.Val49Met pathogenic variant in a case of PIGA-CDG with megacolon, in the Journal: (JOURNAL)
• what: The authors report, herein, the first Mexican child with PIGA-CDG presenting a previously uncharacterized novel missense PIGA pathogenic variant, resulting in a moderate-to-severe phenotype. The authors report the case of a male child that presented with a predominantly neurological and gastrointestinal infection, including moderate and prolonged neonatal jaundice that was associated with Gilbert`s . . .
  

   

  

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