SMAD4 Mutations Causing Myhre Syndrome Are under Positive Selection in the Male Germline
Katherine A. Wood, R. Spencer Tong,Marialetizia Motta,Viviana Cordeddu,Eleanor R. Scimone,Stephen J. Bush, Dale W. Maxwell,Eleni Giannoulatou,Viviana Caputo,Alice Traversa,Cecilia Mancini,Giovanni B. Ferrero,Francesco Benedicenti,Paola Grammatico,Daniela Melis,Katharina Steindl,Nicola Brunetti-Pierri,Eva Trevisson,Andrew O. M. Wilkie,Angela E. Lin,Valerie Cormier-Daire,Stephen R. F. Twigg,Marco Tartaglia,Anne Goriely AMERICAN JOURNAL OF HUMAN GENETICS（2024）
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spermatogonial stem cell,paternal age effect,selfish selection,rare disorder,de novo mutation,TGF-β/BMP/activin pathway
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