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2017 1
2019 1
2021 0
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Page 1
Confirmation of a new phenotype in an individual with a variant in the last part of exon 30 of CREBBP.
Angius A, Uva P, Oppo M, Persico I, Onano S, Olla S, Pes V, Perria C, Cuccuru G, Atzeni R, Serra G, Cucca F, Sotgiu S, Hennekam RC, Crisponi L. Angius A, et al. Among authors: pes v. Am J Med Genet A. 2019 Apr;179(4):634-638. doi: 10.1002/ajmg.a.61052. Epub 2019 Feb 8. Am J Med Genet A. 2019. PMID: 30737887
Clinical and Neurobehavioral Features of Three Novel Kabuki Syndrome Patients with Mosaic KMT2D Mutations and a Review of Literature.
Lepri FR, Cocciadiferro D, Augello B, Alfieri P, Pes V, Vancini A, Caciolo C, Squeo GM, Malerba N, Adipietro I, Novelli A, Sotgiu S, Gherardi R, Digilio MC, Dallapiccola B, Merla G. Lepri FR, et al. Among authors: pes v. Int J Mol Sci. 2017 Dec 28;19(1):82. doi: 10.3390/ijms19010082. Int J Mol Sci. 2017. PMID: 29283410 Free PMC article.
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