000 01419 a2200421 4500
005 20250515203947.0
264 0 _c20100617
008 201006s 0 0 eng d
022 _a1778-7254
024 7 _a10.1016/j.jbspin.2009.11.013
_2doi
040 _aNLM
_beng
_cNLM
100 1 _aMarques-Pinheiro, Alice
245 0 0 _aNovel LRP5 gene mutation in a patient with osteoporosis-pseudoglioma syndrome.
_h[electronic resource]
260 _bJoint bone spine
_cMar 2010
300 _a151-3 p.
_bdigital
500 _aPublication Type: Case Reports; Journal Article
650 0 4 _aBlindness
_xgenetics
650 0 4 _aBone Density
_xgenetics
650 0 4 _aFractures, Bone
_xgenetics
650 0 4 _aFrameshift Mutation
650 0 4 _aHumans
650 0 4 _aLDL-Receptor Related Proteins
_xgenetics
650 0 4 _aLow Density Lipoprotein Receptor-Related Protein-5
650 0 4 _aMale
650 0 4 _aOsteoporosis
_xgenetics
650 0 4 _aSequence Analysis, DNA
650 0 4 _aSyndrome
650 0 4 _aYoung Adult
700 1 _aLevasseur, Régis
700 1 _aCormier, Catherine
700 1 _aBonneau, Jessica
700 1 _aBoileau, Catherine
700 1 _aVarret, Mathilde
700 1 _aAbifadel, Marianne
700 1 _aAllanore, Yannick
773 0 _tJoint bone spine
_gvol. 77
_gno. 2
_gp. 151-3
856 4 0 _uhttps://doi.org/10.1016/j.jbspin.2009.11.013
_zAvailable from publisher's website
999 _c19473043
_d19473043