Identification of a novel large intragenic deletion in a family with Fanconi anemia: first molecular report from India and review of literature.


We report here an Indian case with Fanconi anemia (FA) presented with fever, pallor, short stature, hyperpigmentation and upper limb anomaly. Chromosome breakage analysis together with FANCD2 Western blot monoubiquitination assay confirmed the diagnosis as FA. Multiplex ligation-dependent probe amplification (MLPA) revealed a novel homozygous large… (More)
DOI: 10.1016/j.gene.2013.01.016


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