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