Condition: TAKENOUCHI-KOSAKI SYNDROME


rs864309721 in CDC42 gene and TAKENOUCHI-KOSAKI SYNDROME PMID 26708094 2016 Further evidence of a mutation in CDC42 as a cause of a recognizable syndromic form of thrombocytopenia.

PMID 26386261 2015 Macrothrombocytopenia and developmental delay with a de novo CDC42 mutation: Yet another locus for thrombocytopenia and developmental delay.