Stacey B Sandusky

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BACKGROUND Chondrodystrophic myotonia or Schwartz-Jampel syndrome is a rare genetic disorder characterized by myotonia and skeletal dysplasia. It may be progressive in nature. Recently, the gene responsible for Schwartz-Jampel syndrome has been found and the defective protein it encodes leads to abnormal cartilage development and anomalous neuromuscular(More)
OBJECTIVES To examine the frequency and correlates of fatigue and its impact on physical and social functioning in patients with scleroderma, and to investigate whether fatigue mediates an association between pain and physical function. METHODS One hundred and seven scleroderma patients attending an academic scleroderma specialty centre completed measures(More)
To investigate the specific effect of the Fgfr3 K644E mutation on central nervous system (CNS) development, we have generated tissue-specific TDII mice by crossing Fgfr3(+/K644E-neo) transgenic mice with CNS-specific Nestin-cre or cartilage-specific Col2a1-cre mice. TDII/Nestin-cre (TDII-N) neonates did not demonstrate a profound skeletal phenotype. TDII-N(More)
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