In this report, we describe three (two familial and one sporadic) non-consanguineous cases presenting with ODDD features in whom we identified novel missense heterozygous mutations of the GJA1 gene: c.317T&gt;G (p. L106R), c.G139C (p.D47H), and c.C257A (p.S86Y).
C0812437
Oculo-dento-digital syndrome