SA25 AN INHERITED DISTAL 16P11.2 DELETION DEMONSTRATES VARIABLE EXPRESSIVITY AND INCOMPLETE PENETRANCE FOR PSYCHIATRIC ILLNESS AS WELL AS ASSOCIATION WITH RHIZOMELIC SHORTENING: A CASE REPORT
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DOI: 10.1016/j.euroneuro.2017.08.097
Abstract: Background The most commonly reported 16p Copy Number Variant (CNV) - 16p11.2 deletion syndrome (16pDS) (~600 kb; 29.5 -30.1 Mb) – has been robustly associated with schizophrenia (SZ), as well as Intellectual Disabilities (ID)/Developmental Delays (DD), congenital… read more here.
Keywords: distal 16p11; rhizomelic shortening; deletion; report ... See more keywords