Literature DB >> 31633649

Homozygous NEK8 Mutations in Siblings With Neonatal Cholestasis Progressing to End-stage Liver, Renal, and Cardiac Disease.

Sara Hassan1, Matthias T F Wolf2, Luis A Umaña3, Sadia Malik4, Naseem Uddin5, John Andersen1, Amal Aqul1.   

Abstract

Entities:  

Year:  2020        PMID: 31633649     DOI: 10.1097/MPG.0000000000002517

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


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  1 in total

Review 1.  Renal-hepatic-pancreatic dysplasia-1 with a novel NPHP3 genotype: a case report and review of the literature.

Authors:  Hui Zhu; Zhi-Hui Zhao; Shu-Yao Zhu; Fu Xiong; Li-Hong He; Yong Zhang; Jin Wang
Journal:  BMC Pediatr       Date:  2022-10-18       Impact factor: 2.567

  1 in total

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