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PReS-FINAL-2173: Protein kinase C delta deficiency is a new cause of monogenic SLE
Download from link.springer.comMutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature.
Download from www.nature.comMutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus.
Download from dipot.ulb.ac.beA frameshift mutation in LRSAM1 is responsible for a dominant hereditary polyneuropathy.
Download from academic.oup.comClinical, neuroradiological and genetic findings in pontocerebellar hypoplasia
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