Articles with "digital syndromes" as a keyword



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Fifteen years of research on oral–facial–digital syndromes: from 1 to 16 causal genes

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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… read more here.

Keywords: years research; oral facial; digital syndromes; fifteen years ... See more keywords