Original paper
Fifteen years of research on oral–facial–digital syndromes: from 1 to 16 causal genes
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 of OFDS subtypes. The most frequent, OFD type I, is caused by a heterozygous mutation in the OFD1 gene encoding a centrosomal protein. The wide clinical heterogeneity of OFDS...
Paper Details
Title
Fifteen years of research on oral–facial–digital syndromes: from 1 to 16 causal genes
Published Date
Mar 13, 2017
Journal
Volume
54
Issue
6
Pages
371 - 380
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Notes
History