Condition: Kohlschutter Tonz syndrome


rs1060502981 in ROGDI gene and Kohlschutter Tonz syndrome PMID 22424600 2012 Mutations in ROGDI Cause Kohlschütter-Tönz Syndrome.

PMID 23086778 2013 Kohlschütter-Tönz syndrome: mutations in ROGDI and evidence of genetic heterogeneity.