Search Results - "Dorfman, Aaron T"

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    Emergence of the natural history of Myhre syndrome: 47 patients evaluated in the Massachusetts General Hospital Myhre Syndrome Clinic (2016–2023) by 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., Acosta, Luisa Paredes, Bassetti, Jennifer A., Bowdin, Sarah, Bress, Joy A., Camarda, Joseph A., Chiu, Joanne S., Corrales, C. Eduardo, Costain, Gregory, Dinulos, Mary Beth P., Devanagondi, Rajiv, Doherty, Emily S., Dykes, John, Duhaime, Ann‐Christine, English, Robert F., Fieg, Elizabeth, Friedman, Nora D. B., Garabedian, Carl P., Glowacki, Samantha, Gottlieb, Barbara R., Griffin, Mary Hope, Hayes, Frances J., Hicks, Stephanie R., Hinze, Alicia M., Jason, Brigette A., Krier, Joel, Lindgren, Kristen, Lyons, Michael, Majid, Adnan, Mannem, Hannah C., McDonald, Marie, Misra, Vinod, Morgan, Amy, Nath, Barbara J., Ploutz, Michele, Prijoles, Eloise J., Pulsifer, Margaret B., Quesnel, Alicia M., Rajabi, Farrah, Rohanizadegan, Mersedeh, Rosales, Ana Maria, Rothermel, Holly, Schussler, Edith, Sellars, Elizabeth A., Shieh, Joseph, Sherrill, Stephanie, Taska‐Tench, Heidi, Thompson, Matthew, Tiller, George E., Vallee, Stephanie E., Viskochil, David, Ware, Stephanie, Whooten, Rachel C., Yang, Samuel, Zackai, Elaine H., Zakaria, Dala

    “…Myhre syndrome is an increasingly diagnosed ultrarare condition caused by recurrent germline autosomal dominant de novo variants in SMAD4. Detailed…”
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