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Proteus syndrome: Clinical diagnosis of a series of cases.
Alves C, Acosta AX, Toralles MB. Alves C, et al. Among authors: toralles mb. Indian J Endocrinol Metab. 2013 Nov;17(6):1053-6. doi: 10.4103/2230-8210.122621. Indian J Endocrinol Metab. 2013. PMID: 24381883 Free PMC article.
Novel ANKRD11 gene mutation in an individual with a mild phenotype of KBG syndrome associated to a GEFS+ phenotypic spectrum: a case report.
Alves RM, Uva P, Veiga MF, Oppo M, Zschaber FCR, Porcu G, Porto HP, Persico I, Onano S, Cuccuru G, Atzeni R, Vieira LCN, Pires MVA, Cucca F, Toralles MBP, Angius A, Crisponi L. Alves RM, et al. BMC Med Genet. 2019 Jan 14;20(1):16. doi: 10.1186/s12881-019-0745-7. BMC Med Genet. 2019. PMID: 30642272 Free PMC article.
56 results