@article{article, title  = {{The value of whole exome sequencing for genetic diagnosis in a patient with Bloom syndrome}},

 publisher = {{Springer Science and Business Media LLC}},

 url = {{https://doi.org/10.1007/s40618-020-01433-z }},

 year = {{2020}},

 month = {{9}},

 author = {{Cottrell E and Ladha T and Borysewicz-Sańczyk H and Sawicka B and Savage MO and Bossowski AT and Storr HL}},

 doi = {{10.1007/s40618-020-01433-z}},

 volume = {{44}},

 journal = {{Journal of Endocrinological Investigation}},

 issue = {{6}},

 pages = {{1331-1334}},

 note = {{Accessed on 2025/02/05}}}