Associated Papers
A comprehensive molecular study identified 12 complementation groups with 56 novel FANC gene variants in Indian Fanconi anemia subjects.
George M et al.
Human Mutation, 2021
Cytogenetic and molecular diagnosis of Fanconi anemia revealed two hidden phenotypes: Disorder of sex development and cerebro-oculo-facio-skeletal syndrome.
Ben Haj Ali A et al.
Molecular Genetics & Genomic Medicine, 2019
Massively parallel sequencing, aCGH, and RNA-Seq technologies provide a comprehensive molecular diagnosis of Fanconi anemia.
Chandrasekharappa SC et al.
Blood, 2013
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