Germline variant of CTC1 gene in a patient with pulmonary fibrosis and myelodysplastic syndrome

INTRODUCTION: Telomeropathies are associated with a wide range of diseases and less common combinations of various pulmonary and extrapulmonary disorders. CASE PRESENTATION: In proband with high-risk myelodysplastic syndrome and interstitial pulmonary fibrosis, whole exome sequencing revealed a germ...

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Detalles Bibliográficos
Autores principales: Doubková, Martina, Vrzalová, Zuzana, Štefániková, Marianna, Červinek, Libor, Kozubík, Kateřina Staňo, Blaháková, Ivona, Pospíšilová, Šárka, Doubek, Michael
Formato: Online Artículo Texto
Lenguaje:English
Publicado: PAGEPress Publications, Pavia, Italy 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10316942/
https://www.ncbi.nlm.nih.gov/pubmed/37404458
http://dx.doi.org/10.4081/mrm.2023.909

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10316942/
https://www.ncbi.nlm.nih.gov/pubmed/37404458
http://dx.doi.org/10.4081/mrm.2023.909

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