Browsing by Author "Cardoso, Shirleny"
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Marked overlap of four genetic syndromes with dyskeratosis congenita confounds clinical diagnosis
Walne, Amanda J.; Collopy, Laura; Cardoso, Shirleny; Ellison, Alicia; Plagnol, Vincent; Albayrak, Canan; Dokal, Inderjeet (Ferrata Storti Foundation, 2016)Dyskeratosis congenita is a highly pleotropic genetic disorder. This heterogeneity can lead to difficulties in making an accurate diagnosis and delays in appropriate management. The aim of this study was to determine the ...