Structural modeling of a novel TERC variant in a patient with aplastic anemia and short telomeres
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Compliance with ethical standards
Clinical investigations and genetic analyses were approved by the institutional scientific board of Bambino Gesù Children’s Hospital. Informed consent was obtained from the patient.
Conflict of interest
The authors declare that they have no conflict of interest.
- 1.Yu QH, Wang SY, Wu Z (2014) Advances in genetic studies of inherited bone marrow failure syndromes and their associated malignancies. Transl Pediatr 3(4):305–309Google Scholar
- 3.Ortmann CA, Niemeyer CM, Wawer A, Ebell W, Baumann I, Kratz CP (2006) TERC mutations in children with refractory cytopenia. Haematologica 91(5):707–708Google Scholar
- 4.Adam MP, Ardinger HH, Pagon RA. et al. (2009). Dyskeratosis Congenita. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018. Nov 12 [updated 2016 May 26]Google Scholar