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pro vyhledávání: '"Sionne Lucas"'
Autor:
Niles Nelson, Simone Feurstein, Aram Niaz, Jia Truong, Jessica K. Holien, Sionne Lucas, Kirsten Fairfax, Joanne Dickinson, Tracy M. Bryan
Publikováno v:
Genetics in Medicine. 25:100354
BackgroundPatients with an underlying telomere biology disorder (TBD) have variable clinical presentations and can be challenging to diagnose clinically. A genomic diagnosis for patients presenting with TBD is vital for optimal treatments. Unfortunat