Updated consensus guidelines on the management of Phelan–McDermid syndrome
Siddharth Srivastava, Mustafa Şahin, Joseph D. Buxbaum, Elizabeth Berry‐Kravis et autres
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 …
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52 citations
American Journal of Medical Genetics Part A