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.
Alankarage D, et al. Among authors: sparrow db.
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Differentiation. 2022.
PMID: 36194927
Free PMC article.