Identification of rare heterozygous missense mutations in FANCA in esophageal atresia patients using next-generation sequencing.
Sign Up to like & getrecommendations! Published in 2018 at "Gene"
DOI: 10.1016/j.gene.2018.03.097
Abstract: Esophageal atresia and tracheoesophageal fistula (EA/TEF) are relatively common malformations in newborns, but the etiology of EA/TEF remains unknown. Fanconi anemia (FA) complementation group A (FANCA) is a key component of the FA core complex… read more here.
Keywords: missense; mutations fanca; fanca; esophageal atresia ... See more keywords
Clinical and Genetic Features of Patients With Fanconi Anemia in Lebanon and Report on Novel Mutations in the FANCA and FANCG Genes.
Sign Up to like & getrecommendations! Published in 2020 at "Journal of Pediatric Hematology/Oncology"
DOI: 10.1097/mph.0000000000001909
Abstract: Fanconi anemia (FA) is the most common inherited bone marrow failure syndrome and presents with cytopenias, characteristic physical features, increased chromosomal breaks, and a higher risk of malignancy. Genetic features of this disease vary among… read more here.
Keywords: fanca fancg; features patients; fanconi anemia; mutations fanca ... See more keywords