Genetic characterisation of 22q11.2 variations and prevalence in patients with congenital heart disease
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DOI: 10.1136/archdischild-2018-316634
Abstract: Objectives The 22q11.2 deletion syndrome is considered the most frequent chromosomal microdeletion syndrome in humans and the second leading chromosomal cause of congenital heart disease (CHD). We aimed to identify the prevalence and the detailed… read more here.
Keywords: patients chd; heart disease; prevalence; characterisation 22q11 ... See more keywords