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Page 1
Could the MED13 mutations manifest as a Kabuki-like syndrome?
De Nardi L, Faletra F, D'Adamo AP, Bianco AMR, Athanasakis E, Bruno I, Barbi E. De Nardi L, et al. Among authors: bianco amr. Am J Med Genet A. 2021 Feb;185(2):584-590. doi: 10.1002/ajmg.a.61994. Epub 2020 Nov 30. Am J Med Genet A. 2021. PMID: 33258286
The Genetic Diagnosis of Ultrarare DEEs: An Ongoing Challenge.
Musante L, Costa P, Zanus C, Faletra F, Murru FM, Bianco AM, La Bianca M, Ragusa G, Athanasakis E, d'Adamo AP, Carrozzi M, Gasparini P. Musante L, et al. Genes (Basel). 2022 Mar 12;13(3):500. doi: 10.3390/genes13030500. Genes (Basel). 2022. PMID: 35328054 Free PMC article.
Unusual splice site mutations disrupt FANCA exon 8 definition.
Mattioli C, Pianigiani G, De Rocco D, Bianco AM, Cappelli E, Savoia A, Pagani F. Mattioli C, et al. Biochim Biophys Acta. 2014 Jul;1842(7):1052-8. doi: 10.1016/j.bbadis.2014.03.014. Epub 2014 Apr 1. Biochim Biophys Acta. 2014. PMID: 24704046 Free article.