Novel compound heterozygous mutations in ENPP1 cause hypophosphataemic rickets with anterior spinal ligament ossification.

Detaylı Bibliyografya
Asıl Yazarlar:	Mehta, P, Mitchell, A, Tysoe, C, Caswell, R, Owens, M, Vincent, T
Materyal Türü:	Journal article
Dil:	English
Baskı/Yayın Bilgisi:	2012

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The effect of 1,25-dihydroxycholecalciferol on renal tubular reabsorption of phosphate, intestinal absorption of calcium and bone histology in hypophosphataemic renal tubular rickets.
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Risk factors of dysphagia in patients with ossification of the anterior longitudinal ligament
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Case report: Multiple arterial stenoses induced by autosomal-recessive hypophosphatemic rickets type 2 associated with mutation of ENPP1: a case study
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Case Report and Review of Literature: Autosomal Recessive Hypophosphatemic Rickets Type 2 Caused by a Pathogenic Variant in ENPP1 Gene
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Novel compound heterozygous mutations in ENPP1 cause hypophosphataemic rickets with anterior spinal ligament ossification.

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