Paternal or maternal uniparental disomy of chromosome 16 resulting in homozygosity of a mutant allele causes Fanconi anemia

Fanconi anemia (FA) is a rare inherited disorder caused by pathogenic variants in one of 19 FANC genes. FA patients display congenital abnormalities, and develop bone marrow failure, and cancer susceptibility. We identified homozygous mutations in four FA patients and, in each case, only one parent...

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Veröffentlicht in:Hum Mutat
Hauptverfasser: Donovan, Frank X., Kimble, Danielle C., Kim, Yonghwan, Lach, Francis P., Harper, Ursula, Kamat, Aparna, Jones, MaryPat, Sanborn, Erica M., Tryon, Rebecca, Wagner, John E., MacMillan, Margaret L., Ostrander, Elaine A., Auerbach, Arleen D., Smogorzewska, Agata, Chandrasekharappa, Settara C.
Format: Artigo
Sprache:Inglês
Veröffentlicht: 2016
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Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4833600/
https://ncbi.nlm.nih.gov/pubmed/26841305
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.22962
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