Detailed Autopsies Performed on Two Females With Myhre Syndrome Elucidate Features of SMAD4 Gain-of-Function Pathophysiology.

Dannheim K, Eilers G, Page NC, Garg S, Anderson K, Colglazier E, Parker C, Teitel DF, Sanchez HC, Sidebottom R, Abbott B, Knoll JL, Brand MR, Mou H, Lindsay ME, Lin AE