Literature DB >> 23636179

Arthrogryposis, renal dysfunction, and cholestasis syndrome caused by VIPAR mutation.

Oanez Ackermann1, Emmanuel Gonzales, Marion Keller, Catherine Guettier, Paul Gissen, Emmanuel Jacquemin.   

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Year:  2014        PMID: 23636179     DOI: 10.1097/MPG.0b013e318298108f

Source DB:  PubMed          Journal:  J Pediatr Gastroenterol Nutr        ISSN: 0277-2116            Impact factor:   2.839


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  1 in total

1.  A novel mutation in VPS33B gene causing a milder ARC syndrome phenotype with prolonged survival.

Authors:  Rodrigo Del Brío Castillo; James E Squires; Patrick J McKiernan
Journal:  JIMD Rep       Date:  2019-03-22
  1 in total

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