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    • ERN-ITHACA Patients Representatives
    • Find an Expert Center
    • Documentation for patients & families
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    • Educational Resources
    • Online Genetics Course APOGeE
    • Guidelines
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    • Guidelines methodology
    • Orphanet Updates
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    • Survival guide to genetics
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Home > For Clinicians > List Of Publications > KBG syndrome: Common and uncommon clinical features based on 31 new patients

KBG syndrome: Common and uncommon clinical features based on 31 new patients

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Infantile-Onset Syndromic Cerebellar Ataxia and CACNA1G Mutations
New Insights into the Role of Lipoprotein(a) as Predictor of Early Onset of Cardiovascular Disease in Pediatric Familial Hypercholesterolemia (FH)
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ERN ITHACA is one of the 24 European Reference Networks (ERNs) approved by the ERN Board of Member States. The ERNs are co-funded by the European Commission. For more information about the ERNs and the EU health strategy, please visit http://ec.europa.eu/ health/ern

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