Case report and review of literature: autosomal recessive hypophosphatemic rickets type 2 caused by a pathogenic variant in enpp1 gene

HIGHLIGHTS

• who: Yunsoo Choe et al. from the Department of Pediatrics, Seoul National University, Seoul, South Korea, Department of Genomic Center, Japan have published the research work: Case Report and Review of Literature: Autosomal Recessive Hypophosphatemic Rickets Type 2 Caused by a Pathogenic Variant in ENPP1 Gene, in the Journal: (JOURNAL) of October/11,/2017
• what: The authors report a rare case of ARHR2, evaluating other ENPP1-related disorders through systematic examination.

SUMMARY

Autosomal recessive hypophosphatemic rickets type 2 (ARHR2; OMIM 613312) is a rare form of hereditary hypophosphatemic rickets, characterized by . . .

 



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