Literature DB >> 17593545

Renal-hepatic-pancreatic dysplasia: an autosomal recessive condition that is not linked to the PKHD1 gene on chromosome 6p21.1-p12.

Kasmintan A Schrader1, Tanya N Nelson, Deborah E McFadden, Tapio Pantzar, Sylvie Langlois.   

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Year:  2007        PMID: 17593545     DOI: 10.1002/ajmg.a.31818

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN: 1552-4825            Impact factor:   2.802


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  2 in total

1.  Failure to Thrive, Jaundice, and Polyuria in Early Infancy: Common Presentation with an Uncommon Lethal Etiology.

Authors:  Sonia Sharma
Journal:  J Pediatr Genet       Date:  2019-11-11

Review 2.  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

  2 in total

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