Potential blindness in children of patients with hereditary bone disease

Mono- and bi-allelic mutations in the low-density lipoprotein receptor related protein 5 ( LRP5 ) may cause osteopetrosis, autosomal dominant and recessive exudative vitreoretinopathy, juvenile osteoporosis, or persistent hyperplastic primary vitreous (PHPV). We report on a child affected with PHPV...

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Veröffentlicht in:	Osteoporosis international 2016-02, Vol.27 (2), p.841-844
Hauptverfasser:	Kheir, V., Munier, F. L., Aubry-Rozier, B., Schorderet, D. F.
Format:	Artikel
Sprache:	eng
Schlagworte:	Blindness Blindness - etiology Blindness - genetics Bone Diseases, Metabolic - genetics Case Report Endocrinology Female Humans Infant Low Density Lipoprotein Receptor-Related Protein-5 - genetics Male Medicine Medicine & Public Health Mutation Orthopedics Osteoporosis Osteoporosis - genetics Osteoporotic Fractures - genetics Pedigree Persistent Hyperplastic Primary Vitreous - complications Persistent Hyperplastic Primary Vitreous - genetics Proteins Rheumatology
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