Konu "SPENCD/SPENCDI" için WoS İndeksli Yayınlar Koleksiyonu listeleme
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Spondyloenchondrodysplasia Due to Mutations in ACP5: A Comprehensive Survey
(SPRINGER/PLENUM PUBLISHERS, 2016)Spondyloenchondrodysplasia is a rare immuno-osseous dysplasia caused by biallelic mutations in ACP5. We aimed to provide a survey of the skeletal, neurological and immune manifestations of this disease in a cohort of ...