article_metadata: Mara Giordano Valentina Muratore Deepak Babu Cristina Meazza Mauro Bozzola
article_metadata: 10.1186/s13039-016-0298-9
article_metadata: Mol Cytogenet
article_metadata: 2016 Dec 3;9:89.
article_metadata: 18p1131-p1123 microduplication chorioretinal coloboma deafness growth hormone deficiency hypoplasia of the cerebellar vermis
article_metadata: CC BY
article_metadata: https://pubmed.ncbi.nlm.nih.gov/27980677/
article_metadata: Case Reports
article_metadata: PMC5135744
article_metadata: 27980677
article_metadata: A 18p11.23-p11.31 microduplication in a boy with psychomotor delay, cerebellar vermis hypoplasia, chorioretinal coloboma, deafness and GH deficiency
article_metadata: 2016