Genotype-phenotype associations in Fanconi anemia: A literature review

Fanconi anemia (FA) is a genomic instability syndrome with predisposition to congenital abnormalities, bone marrow failure, and cancer. Classical and most frequent congenital abnormalities include all those seen in VACTERL-H association and those described under the PHENOS acronym. Pathogenic varian...

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Veröffentlicht in:	Blood reviews 2019-09, Vol.37, p.100589-100589, Article 100589
Hauptverfasser:	Fiesco-Roa, Moisés O., Giri, Neelam, McReynolds, Lisa J., Best, Ana F., Alter, Blanche P.
Format:	Artikel
Sprache:	eng
Schlagworte:	Congenital abnormality Fanconi anemia Fanconi Anemia - genetics Gene Genotype Genotype-phenotype association Humans PHENOS Phenotype VACTERL-H
Online-Zugang:	Volltext
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