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

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作者
Lauren M. Chunn
Jeffrey Bissonnette
Stefanie V. Heinrich
Stephanie A. Mercurio
Mark J. Kiel
Frank Rutsch
Carlos R. Ferreira
机构
[1] Genomenon,Department of General Paediatrics
[2] Inc.,Metabolic Medicine Branch
[3] Muenster University Children’s Hospital,undefined
[4] National Human Genome Research Institute,undefined
[5] National Institutes of Health,undefined
关键词
ENPP1 deficiency; Generalized arterial calcification of infancy (GACI); Autosomal recessive hypophosphatemic rickets type 2 (ARHR2); Population database; Prevalence;
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