Searchable abstracts of presentations at key conferences on calcified tissues
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European Calcified Tissue Society Congress 2013

Lisbon, Portugal
18 May 2013 - 22 May 2013

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European Calcified Tissue Society Congress 2013, 18 - 22 May 2013; Lisbon, Portugal

Main Symposium

Extreme bone phenotypes

ba0001s3.1 | Extreme bone phenotypes | ECTS2013

Diagnosis and clinical management of genetic skeletal disorders

Alanay Yasemin

Today, there are more than 450 well-characterized genetic skeletal disorders classified primarily on the basis of clinical, radiographic, and molecular criteria. Although individually rare, the overall birth incidence is estimated to be 1/5000 live births. Half a century ago, in the 1960s, individuals with disproportionate short stature were diagnosed either with achondroplasia (short-limbed dwarfism) or Morquio syndrome (short-trunked dwarfism). In time, delineation of numero...

ba0001s3.2 | Extreme bone phenotypes | ECTS2013

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