Myhre syndrome is caused by dominant-negative dysregulation of SMAD4 and other co-factors
Dimuthu Alankarage, Annabelle Enriquez, Robert D. Steiner, Cathy Raggio, Megan Higgins, Di Milnes, David T. Humphreys, Emma L. Duncan, Duncan B. Sparrow, Philip F. Giampietro, Gavin Chapman, Sally L. Dunwoodie
Topics & Concepts
BiologyGeneticsTranscription factorGermlineSMADAlleleTranscriptional regulationPathogenesisRegulatorGeneImmunologyConnective tissue disorders researchCongenital heart defects researchTGF-β signaling in diseases