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Phenotype delineation of ZNF462 related syndrome.
Kruszka P, Hu T, Hong S, Signer R, Cogné B, Isidor B, Mazzola SE, Giltay JC, van Gassen KLI, England EM, Pais L, Ockeloen CW, Sanchez-Lara PA, Kinning E, Adams DJ, Treat K, Torres-Martinez W, Bedeschi MF, Iascone M, Blaney S, Bell O, Tan TY, Delrue MA, Jurgens J, Barry BJ, Engle EC, Savage SK, Fleischer N, Martinez-Agosto JA, Boycott K, Zackai EH, Muenke M. Kruszka P, et al. Among authors: bedeschi mf. Am J Med Genet A. 2019 Oct;179(10):2075-2082. doi: 10.1002/ajmg.a.61306. Epub 2019 Jul 30. Am J Med Genet A. 2019. PMID: 31361404 Free PMC article.
Impairment of different protein domains causes variable clinical presentation within Pitt-Hopkins syndrome and suggests intragenic molecular syndromology of TCF4.
Bedeschi MF, Marangi G, Calvello MR, Ricciardi S, Leone FPC, Baccarin M, Guerneri S, Orteschi D, Murdolo M, Lattante S, Frangella S, Keena B, Harr MH, Zackai E, Zollino M. Bedeschi MF, et al. Eur J Med Genet. 2017 Nov;60(11):565-571. doi: 10.1016/j.ejmg.2017.08.004. Epub 2017 Aug 12. Eur J Med Genet. 2017. PMID: 28807867
111 results