Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
8625267 | Bone | 2018 | 19 Pages |
Abstract
This is the first case of skeletal impairment ever described in Pierson syndrome. Integrin α3β1, receptor for laminin β2, are found in podocytes and osteoblasts, and the observation of both the presence of laminin β2 staining in healthy bone and its absence in the patient's bone raises the question of a potential role of laminin β2 in bone physiology.
Keywords
HR-pQCTGFRBMDNMJGBMpTHDXAALPAlkaline phosphataseNeuromuscular junctionBoneBone mineral densityHigh-resolution peripheral quantitative computed tomographyCNSDual x-ray absorptiometryCongenital nephrotic syndromeglomerular basement membranePhosphorusGlomerular filtration rateparathyroid hormoneRenal transplantationCalcium
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Authors
Camille Beaufils, Delphine Farlay, Irma Machuca-Gayet, Alice Fassier, Martin Zenker, Caroline Freychet, Edith Bonnelye, Aurélia Bertholet-Thomas, Bruno Ranchin, Justine Bacchetta,