DE NOVO TINF2 C.845G>A: PATHOGENIC VARIANT
IN PATIENT WITH DYSKERATOSIS CONGENITA
Kocheva SA, Gjorgjievska M, Martinova K, Antevska-Trajkova Z,
Jovanovska A, Plaseska-Karanfilska D
*Corresponding Author: Svetlana Kocheva, MD, PhD, Department of Hematology and Oncology
Children’s Diseases, Majka Tereza 17, Skopje, North Macedonia, tel. +38971378184
e-mail: dr.kocheva@gmail.com
page: 89
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CONCLUSIONS
DC is a rare genetic disorder with genetic and clinical
heterogeneity. Patients with aplastic anemia should be
screened for this rare condition, even when they do not have
a classical clinical form. Reporting different cases increases
our knowledge of the disease and its heterogeneity. Early
diagnosis allows for prevention of severe invasive infections
and non-infectious complications, thus improving
the success of transplantation and overall prognosis of DC.
Declaration of Interest. The authors report no conflicts
of interest. The authors alone are responsible for the
content and writing of this article.
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