Article
Updated consensus guidelines on the management of Phelan-McDermid syndrome.
American journal of medical genetics. Part A - 1 Aug 2023
Srivastava Siddharth, Sahin Mustafa, Buxbaum Joseph D, Berry-Kravis Elizabeth, Soorya Latha Valluripalli, Thurm Audrey, Bernstein Jonathan A, Asante-Otoo Afua, Bennett William E, Betancur Catalina, Brickhouse Tegwyn H, Passos Bueno Maria Rita, Chopra Maya, Christensen Celanie K, Cully Jennifer L, Dies Kira, Friedman Kate, Gummere Brittany, Holder J Lloyd, Jimenez-Gomez Andres, Kerins Carolyn A, Khan Omar, Kohlenberg Teresa, Lacro Ronald V, Levi Lori A, Levy Tess, Linnehan Diane, Eva Loth, Moshiree Baharak, Neumeyer Ann, Paul Scott M, Phelan Katy, Persico Antonio, Rapaport Robert, Rogers Curtis, Saland Jeffrey, Sethuram Swathi, Shapiro Janine, Tarr Phillip I, White Kerry M, Wickstrom Jordan, Williams Kent M, Winrow Dana, Wishart Brian, Kolevzon Alexander
Abstract excerpt
Phelan-McDermid syndrome (PMS) is a genetic condition caused by SHANK3 haploinsufficiency and characterized by a wide range of neurodevelopmental and systemic manifestations. The first practice parameters for assessment and monitoring in individuals with PMS were published in 2014; recently, knowledge about PMS has grown significantly based on data from longitudinal phenotyping studies and large-scale...
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