[RASopathies and hematologic abnormalities].

Abstract excerpt

Whole exome sequencing with a next generation sequencer is increasingly being used for identifying new genes and for diagnosing genetic disorders. Numerous causative genes have been identified in Mendelian disorders as well as cancers and multifactorial disorders. Among inborn errors of development, recent advances have been noted in the identification of genes for ciliopathy, diseases with aberrant chromatin...

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