Homozygous OB-fold variants in telomere protein TPP1 are associated with dyskeratosis congenita-like phenotypes

Blood. 2018 Sep 20;132(12):1349-1353. doi: 10.1182/blood-2018-03-837799. Epub 2018 Jul 31.

¹ Centre for Genomics and Child Health, Blizard Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, London, United Kingdom.
² Department of Hematology, University of Health Sciences, Ankara Child Health and Diseases, Oncology Training and Research Hospital, Ankara, Turkey.
³ Section of Hematology, Department of Pediatrics, and.
⁴ Department of Ophthalmology, Faculty of Medicine, Gazi University, Ankara, Turkey.
⁵ The Sydney Children's Hospitals Network, Westmead, NSW, Australia.
⁶ BCM-Smith Medical Research Building, Baylor College of Medicine, Houston, TX.
⁷ UCL Institute of Ophthalmology, University College London, London, United Kingdom.
⁸ Centre for Haemato-Oncology, Barts Cancer Institute, Queen Mary University of London, London, United Kingdom; and.
⁹ Chromosome Maintenance Group, UCL Cancer Institute, University College London, London, United Kingdom.

No abstract available

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