Variants in members of the cadherin-catenin complex, CDH1 and CTNND1, cause blepharocheilodontic syndromeGermline mutations affecting the histone H4 core cause a developmental syndrome by altering DNA damage response and cell cycle controlABCC9-related Intellectual disability Myopathy Syndrome is a KATP channelopathy with loss-of-function mutations in ABCC9
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Maarten P Massink