Fanconi Anemia and Ataxia Telangiectasia in Siblings who Inherited Unique Combinations of Novel FANCA and ATM Null Mutations
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DOI: 10.1097/mph.0000000000001336
Abstract: A unique consanguineous family with 2 genomic instability disorders, Fanconi anemia and ataxia telangiectasia, revealed exceptional combinations of null mutations in the FANCA and ATM genes. Two siblings with Fanconi anemia had novel homozygous consecutive… read more here.
Keywords: null mutations; ataxia telangiectasia; fanca atm; fanconi anemia ... See more keywords