Yayıncı "Soc Argentina Pediatria" Dahili Tıp Bilimleri Bölümü Koleksiyonu için listeleme
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Arthrogryposis-renal tubular dysfunction-cholestasis syndrome: a cause of neonatal cholestasis. Case report
(Soc Argentina Pediatria, 2016)Arthrogryposis-renal dysfunction-cholestasis syndrome is a rare lethal disorder that involves multipl organ system. It is inherited autosomal recessive and caused by defects in the VPS33B and VIPAR genes. Three cardinal ...