Myhre syndrome is caused by dominant-negative dysregulation of SMAD4 and other co-factors.
Alankarage D, Enriquez A, Steiner RD, Raggio C, Higgins M, Milnes D, Humphreys DT, Duncan EL, Sparrow DB, Giampietro PF, Chapman G, Dunwoodie SL
Differentiation. 2022 Nov-Dec;128:1-12. doi: 10.1016/j.diff.2022.09.002. Epub 2022 Sep 24.
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