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Weaver syndrome
- ... gene mutations have been identified in people with Weaver syndrome, which involves tall stature, a variable degree of ... Most of the EZH2 gene mutations associated with Weaver syndrome change single protein building blocks (amino acids) in ...
- ... J, Wied HM, Kline-Fath BM, Smolarek TA, Weaver KN, Hopkin RJ. Further expansion and confirmation of phenotype in rare loss of YWHAE gene distinct from Miller-Dieker syndrome. Am J Med Genet A. 2023 Feb;191( ...
- ... Li C, Lee AG, Bermak JC, Belluzzi J, Weaver DR, Leslie FM, Zhou QY. Prokineticin 2 ... and Kallmann Syndrome. Front Endocrinol (Lausanne). 2013 Apr 12;4:19. ...
- ... Martin B, Leary R, Mahan S, Liu S, Weaver M, Doerschner M, Jhangiani S, Muzny DM, Boerwinkle ... Li Y, Yigit G, Wollnik B. Smith-Kingsmore syndrome: A third family with the MTOR mutation c. ...