Browsing PubMed İndeksli Yayınlar Koleksiyonu by Publisher "Soc Argentina Pediatria"
Now showing items 1-2 of 2
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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 ... -
Congenital cutis marmorata telangiectatica and syndactyly in a preterm. Case report
(Soc Argentina Pediatria, 2016)Cutis marmorata telangiectatica congenita (CMTC) is a rare, commonly benign, congenital, localized or generalized vascular anomaly of unknown aetiology. It is characterized by persistent cutis marmorata, telangiectasia and ...