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Estimation of ENPP1 deficiency genetic prevalence using a comprehensive literature review and population databases

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 Recessive Hypophosphatemic Rickets type 2, ARHR2). A prior study usin...

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Detalles Bibliográficos
Autores principales:	Chunn, Lauren M., Bissonnette, Jeffrey, Heinrich, Stefanie V., Mercurio, Stephanie A., Kiel, Mark J., Rutsch, Frank, Ferreira, Carlos R.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2022
Materias:	Research
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9717445/ https://www.ncbi.nlm.nih.gov/pubmed/36461014 http://dx.doi.org/10.1186/s13023-022-02577-2

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