Article
Emergence of the natural history of Myhre syndrome: 47 patients evaluated in the Massachusetts General Hospital Myhre Syndrome Clinic (2016-2023).
American journal of medical genetics. Part A - 1 Oct 2024
Lin Angela E, Scimone Eleanor R, Thom Robyn P, Balaguru Duraisamy, Kinane T Bernard, Moschovis Peter P, Cohen Michael S, Tan Weizhen, Hague Cole D, Dannheim Katelyn, Levitsky Lynne L, Lilly Evelyn, DiGiacomo Daniel V, Masse Kara M, Kadzielski Sarah M, Zar-Kessler Claire A, Ginns Leo C, Neumeyer Ann M, Colvin Mary K, Elder Jack S, Learn Christopher P, Mou Hongmei, Weagle Kathryn M, Buch Karen A, Butler William E, Alhadid Kenda, Musolino Patricia L, Sultana Sadia, Bandyopadhyay Dhrubajyoti, Rapalino Otto, Peacock Zachary S, Chou Elizabeth L, Heidary Gena, Dorfman Aaron T, Morris Shaine A, Bergin James D, Rayment Jonathan H, Schimmenti Lisa A, Lindsay Mark E
Abstract excerpt
Myhre syndrome is an increasingly diagnosed ultrarare condition caused by recurrent germline autosomal dominant de novo variants in SMAD4. Detailed multispecialty evaluations performed at the Massachusetts General Hospital (MGH) Myhre Syndrome Clinic (2016-2023) and by collaborating specialists have facilitated deep phenotyping, genotyping and natural history analysis. Of 47 patients (four previously reported),...
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