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Home > For Clinicians > List Of Publications > Hereditary hyperferritinemia-cataract syndrome in three Czech families: molecular genetic testing and clinical implications

Hereditary hyperferritinemia-cataract syndrome in three Czech families: molecular genetic testing and clinical implications

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The clinical significance of A2ML1 variants in Noonan syndrome has to be reconsidered.
A novel UBE3A sequence variant identified in eight related individuals with neurodevelopmental delay, results in a phenotype which does not match the clinical criteria of Angelman syndrome  
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