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Published in 2021 at "Neuropediatrics"
DOI: 10.1055/s-0041-1732430
Abstract: AIM The aim of this study was to detail the neurodevelopmental profile of subjects affected by ocular albinism (OA) and to collect data on GPR143 gene analysis. DESIGN The design of the study involves a…
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Keywords:
affected ocular;
profile children;
children affected;
neurodevelopmental profile ... See more keywords
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Published in 2021 at "Developmental medicine and child neurology"
DOI: 10.1111/dmcn.15100
Abstract: AIM To characterize the neurodevelopmental profile and systemic features of HIVEP2-related disorder. METHOD This study used retrospective medical history and standardized assessment data from Simons Searchlight to describe the clinical characteristics of 12 individuals (eight…
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Keywords:
neurodevelopmental profile;
disorder;
related disorder;
hivep2 related ... See more keywords