一种导致关节挛缩、肾功能不全和胆汁淤积综合征轻度表型的新型VPS33B突变 - Suppr

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超能文献

A Novel VPS33B Mutation Causing a Mild Phenotype of Arthrogryposis, Renal dysfunction, and Cholestasis Syndrome.

作者信息

Agawu Atu, Sheppard Sarah, Lin Henry C

机构信息

Division of General Pediatrics, Department of Emergency Medicine.

Division of Human Genetics.

出版信息

J Pediatr Gastroenterol Nutr. 2019 Aug;69(2):e55-e56. doi: 10.1097/MPG.0000000000002306.

DOI:10.1097/MPG.0000000000002306

PMID:31343487

Abstract

摘要

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A Novel VPS33B Mutation Causing a Mild Phenotype of Arthrogryposis, Renal dysfunction, and Cholestasis Syndrome.一种导致关节挛缩、肾功能不全和胆汁淤积综合征轻度表型的新型VPS33B突变

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