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A novel mutation in the MECOM gene causing radioulnar synostosis with amegakaryocytic thrombocytopenia (RUSAT-2) in an infant.
Ajeitha Loganathan
Deenadayalan Munirathnam
Thangadorai Ravikumar
Published in:
Pediatric blood & cancer (2018)
Keyphrases
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genome wide
copy number
genome wide identification
dna methylation
gene expression