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Updated consensus guidelines on the management of Phelan-McDermid syndrome.
Srivastava S, Sahin M, Buxbaum JD, Berry-Kravis E, Soorya LV, Thurm A, Bernstein JA, Asante-Otoo A, Bennett WE Jr, Betancur C, Brickhouse TH, Passos Bueno MR, Chopra M, Christensen CK, Cully JL, Dies K, Friedman K, Gummere B, Holder JL Jr, Jimenez-Gomez A, Kerins CA, Khan O, Kohlenberg T, Lacro RV, Levi LA, Levy T, Linnehan D, Eva L, Moshiree B, Neumeyer A, Paul SM, Phelan K, Persico A, Rapaport R, Rogers C, Saland J, Sethuram S, Shapiro J, Tarr PI, White KM, Wickstrom J, Williams KM, Winrow D, Wishart B, Kolevzon A. Srivastava S, et al. Among authors: bennett we jr. Am J Med Genet A. 2023 Aug;191(8):2015-2044. doi: 10.1002/ajmg.a.63312. Epub 2023 Jul 1. Am J Med Genet A. 2023. PMID: 37392087 Review.
Phelan-McDermid syndrome: a classification system after 30 years of experience.
Phelan K, Boccuto L, Powell CM, Boeckers TM, van Ravenswaaij-Arts C, Rogers RC, Sala C, Verpelli C, Thurm A, Bennett WE Jr, Winrow CJ, Garrison SR, Toro R, Bourgeron T. Phelan K, et al. Among authors: bennett we jr. Orphanet J Rare Dis. 2022 Jan 29;17(1):27. doi: 10.1186/s13023-022-02180-5. Orphanet J Rare Dis. 2022. PMID: 35093143 Free PMC article.
41 results