Marked overlap of four genetic syndromes with dyskeratosis congenita confounds clinical diagnosis

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 underlying genetic basis in patients presenting with features of dyskeratosis c...

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Detalhes bibliográficos
Publicado no:Haematologica
Main Authors: Walne, Amanda J., Collopy, Laura, Cardoso, Shirleny, Ellison, Alicia, Plagnol, Vincent, Albayrak, Canan, Albayrak, Davut, Kilic, Sara Sebnem, Patıroglu, Turkan, Akar, Haluk, Godfrey, Keith, Carter, Tina, Marafie, Makia, Vora, Ajay, Sundin, Mikael, Vulliamy, Thomas, Tummala, Hemanth, Dokal, Inderjeet
Formato: Artigo
Idioma:Inglês
Publicado em: Ferrata Storti Foundation 2016
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Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5046647/
https://ncbi.nlm.nih.gov/pubmed/27612988
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3324/haematol.2016.147769
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