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Article

Ectopic Calcification and Hypophosphatemic Rickets: Natural History of ENPP1 and ABCC6 Deficiencies.

Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research - 1 Nov 2021

Ferreira Carlos R, Kintzinger Kristina, Hackbarth Mary E, Botschen Ulrike, Nitschke Yvonne, Mughal M Zulf, Baujat Genevieve, Schnabel Dirk, Yuen Eric, Gahl William A, Gafni Rachel I, Liu Qing, Huertas Pedro, Khursigara Gus, Rutsch Frank

Abstract excerpt

Generalized arterial calcification of infancy (GACI) is a rare disorder caused by ENPP1 or ABCC6 variants. GACI is characterized by low pyrophosphate, arterial calcification, and high mortality during the first year of life, but the natural course and possible differences between the causative genes remain unknown. In all, 247 individual records for patients with GACI (from birth to 58.3 years of age) across 19...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 34355424
DOI: 10.1002/jbmr.4418
PMCID: PMC8595532

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