TY - GEN AU - McCullagh,B G AU - Kerr,B AU - Trueman,S AU - Tomlin,P I AU - Thomas,M AU - Wynn,R AU - de Goede,C G E L TI - Distinctive neurological phenotype associated with partial trisomy of chromosome 16 SN - 1532-2130 PY - 2013///0722 KW - Abnormalities, Multiple KW - genetics KW - Blindness, Cortical KW - Chromosomes, Human, Pair 16 KW - Dystonia KW - Female KW - Humans KW - In Situ Hybridization, Fluorescence KW - Infant, Newborn KW - Mosaicism KW - Neutropenia KW - Phenotype KW - Trisomy KW - pathology N1 - Publication Type: Case Reports; Journal Article UR - https://doi.org/10.1016/j.ejpn.2012.06.009 ER -