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UnknownMutation analysis of the CTNS gene in Iranian patients with infantile nephropathic cystinosis: identification of two novel mutations.
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S-EPMC5628181 | biostudies-literature
UnknownEarly Onset Cerebral Infarction in Schimke Immuno-Osseous Dysplasia.
Not available
S-EPMC6045942 | biostudies-literature
UnknownSMARCAL1 deficiency predisposes to non-Hodgkin lymphoma and hypersensitivity to genotoxic agents in vivo.
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S-EPMC3429644 | biostudies-literature
UnknownDental abnormalities in Schimke immuno-osseous dysplasia.
Not available
S-EPMC3383106 | biostudies-literature
UnknownReduced elastogenesis: a clue to the arteriosclerosis and emphysematous changes in Schimke immuno-osseous dysplasia?
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S-EPMC3568709 | biostudies-literature
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