Morquio-B disease: Clinical and genetic characteristics of a distinct GLB1 -related dysostosis multiplex.
JIMD reports（2020）
摘要
Data provide a basis for future systematic collection of clinical, biochemical, morphologic, and genetic data of this ultra-rare condition.
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关键词
dwarfism,literature review,mucopolysaccharidosis,natural history,spondyloepiphyseal dysplasia
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