Ontology highlight
ABSTRACT: Two subjects with 22q11.2 deletion syndromes (22q11DS) and their parents were recruited for a whole genome sequencing study to identify candidate genetic modifiers of the various phenotypes seen in 22q11DS. Both probands had a typical 3 megabase deletion on chromosome 22q11.2 but discordant phenotypes.
SECONDARY ACCESSION(S): PRJNA267623PRJNA267622
REPOSITORIES: dbGaP
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