@article{a9acf975874e40f0b05e132a50301ed4,
title = "A 18p11.23-p11.31 microduplication in a boy with psychomotor delay, cerebellar vermis hypoplasia, chorioretinal coloboma, deafness and GH deficiency",
abstract = "Rearrangements involving the short arm of chromosome 18 have been extensively described. Here we report a microduplication of 320.5-431.5 Kb at 18p11.31-p11.23 in a 10 year-old boy.",
keywords = "18p11.31-p11.23 microduplication, Chorioretinal coloboma, Deafness, Growth hormone deficiency, Hypoplasia of the cerebellar vermis, 18p11.31-p11.23 microduplication, Chorioretinal coloboma, Deafness, Growth hormone deficiency, Hypoplasia of the cerebellar vermis",
author = "Mara GIORDANO and Valentina Muratore and DEEPAK BABU and Cristina Meazza and Mauro Bozzola",
note = "Publisher Copyright: {\textcopyright} 2016 The Author(s).",
year = "2016",
doi = "10.1186/s13039-016-0298-9",
language = "English",
volume = "9",
pages = "89",
journal = "Molecular Cytogenetics",
issn = "1755-8166",
publisher = "BioMed Central Ltd.",
}