RNA‐Seq detects a SAMD12‐EXT1 fusion transcript and leads to the discovery of an EXT1 deletion in a child with multiple osteochondromas
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DOI: 10.1002/mgg3.560
Abstract: We describe a patient presenting with pachygyria, epilepsy, developmental delay, short stature, failure to thrive, facial dysmorphisms, and multiple osteochondromas. read more here.
Keywords: samd12 ext1; multiple osteochondromas; ext1 fusion; detects samd12 ... See more keywords