Next-generation sequencing reveals novel variants and large deletion in FANCA gene in Polish family with Fanconi anemia

Next-generation sequencing reveals novel variants and large deletion in FANCA gene in Polish family with Fanconi anemia

Abstract Background Fanconi anemia (FA) is the most common inherited bone marrow failure syndrome. However, establishing its molecular diagnosis remains challenging. Chromosomal breakage analysis is the gold standard diagnostic test for this disease. Nevertheless, molecular analysis is always requir...

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Dettagli Bibliografici
Autori principali: Anna Repczynska, Katarzyna Julga, Jolanta Skalska-Sadowska, Magdalena M. Kacprzak, Alicja Bartoszewska-Kubiak, Ewelina Lazarczyk, Damian Loska, Malgorzata Drozniewska, Kamila Czerska, Jacek Wachowiak, Olga Haus
Natura: Articolo
Lingua:English
Pubblicazione: BMC 2022-07-01
Serie:Orphanet Journal of Rare Diseases
Soggetti:
Fanconi anemia
Thrombocytopenia
Chromosome breakage test
aCGH
FANCA gene
Accesso online:https://doi.org/10.1186/s13023-022-02424-4

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https://doi.org/10.1186/s13023-022-02424-4

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