Article
Taxonomy of rare genetic metabolic bone disorders.
Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA - 1 Oct 2015
Masi L, Agnusdei D, Bilezikian J, Chappard D, Chapurlat R, Cianferotti L, Devolgelaer J-P, El Maghraoui A, Ferrari S, Javaid M K, Kaufman J-M, Liberman U A, Lyritis G, Miller P, Napoli N, Roldan E, Papapoulos S, Watts N B, Brandi M L
Abstract excerpt
UNLABELLED: This article reports a taxonomic classification of rare skeletal diseases based on metabolic phenotypes. It was prepared by The Skeletal Rare Diseases Working Group of the International Osteoporosis Foundation (IOF) and includes 116 OMIM phenotypes with 86 affected genes. INTRODUCTION: Rare skeletal metabolic diseases comprise a group of diseases commonly associated with severe clinical consequences....
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