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of 3
pro vyhledávání: '"Lauren M. Chunn"'
Autor:
Lauren M. Chunn, Jeffrey Bissonnette, Stefanie V. Heinrich, Stephanie A. Mercurio, Mark J. Kiel, Frank Rutsch, Carlos R. Ferreira
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-8 (2022)
Abstract Background ENPP1 Deficiency—caused by biallelic variants in ENPP1—leads to widespread arterial calcification in early life (Generalized Arterial Calcification of Infancy, GACI) or hypophosphatemic rickets in later life (Autosomal Recessi
Externí odkaz:
https://doaj.org/article/cd8c2685876a4e608d9abc0c70fac25e
Autor:
Lauren M. Chunn, Diane C. Nefcy, Rachel W. Scouten, Ryan P. Tarpey, Gurinder Chauhan, Megan S. Lim, Kojo S. J. Elenitoba-Johnson, Steven A. Schwartz, Mark J. Kiel
Publikováno v:
Frontiers in Genetics, Vol 11 (2020)
Design and interpretation of genome sequencing assays in clinical diagnostics and research labs is complicated by an inability to identify information from the medical literature and related databases quickly, comprehensively and reproducibly. This c
Externí odkaz:
https://doaj.org/article/fd17e0a67bac4a788d8286d9c4f60ac3
Autor:
Stephanie A. Mercurio, Lauren M. Chunn, Gus Khursigara, Catherine Nester, Kathleen Wray, Ulrike Botschen, Mark J. Kiel, Frank Rutsch, Carlos R. Ferreira
Publikováno v:
Human mutationREFERENCES. 43(12)
Loss-of-function variants in the ectonucleotide pyrophosphatase/phosphodiesterase family member 1 (ENPP1) cause ENPP1 Deficiency, a rare disorder characterized by pathological calcification, neointimal proliferation, and impaired bone mineralization.