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Published in 2017 at "Journal of Medical Genetics"
DOI: 10.1136/jmedgenet-2016-104436
Abstract: Oral–facial–digital syndromes (OFDS) gather rare genetic disorders characterised by facial, oral and digital abnormalities associated with a wide range of additional features (polycystic kidney disease, cerebral malformations and several others) to delineate a growing list…
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Keywords:
years research;
oral facial;
digital syndromes;
fifteen years ... See more keywords