Novel FANCA mutation in the first fully-diagnosed patient with Fanconi anemia in Polish population – case report

Novel FANCA mutation in the first fully-diagnosed patient with Fanconi anemia in Polish population – case report

Abstract Background Fanconi anemia is a rare genetic disorder caused by mutations in genes which protein products are involved in replication, cell cycle control and DNA repair. It is characterized by congenital malformations, bone marrow failure, and high risk of cancer. The diagnosis is based on m...

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Bibliographic Details
Main Authors: Anna Repczynska, Agata Pastorczak, Katarzyna Babol-Pokora, Jolanta Skalska-Sadowska, Malgorzata Drozniewska, Wojciech Mlynarski, Olga Haus
Format: Article
Language:English
Published: BMC 2020-08-01
Series:Molecular Cytogenetics
Subjects:
Fanconi anemia
Pancytopenia
Chromosomal fragility
FANC genes
Online Access:http://link.springer.com/article/10.1186/s13039-020-00503-4

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http://link.springer.com/article/10.1186/s13039-020-00503-4

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