Pamela Magini Monica Poscente Simona Ferrari Manuela Vargiolu Elena Bacchelli Claudio Graziano Anita Wischmeijer Daniela Turchetti Elisabetta Malaspina Valentina Marchiani Duccio Maria Cordelli Emilio Franzoni Giovanni Romeo Marco Seri
10.1186/s13039-015-0164-1
Mol Cytogenet
2015 Aug 1;8:58.
mecp2 duplication macular degeneration recombinant x chromosome xq28 disomy
CC BY
https://pubmed.ncbi.nlm.nih.gov/26236399/
Case Reports
PMC4522089
26236399
Cytogenetic and molecular characterization of a recombinant X chromosome in a family with a severe neurologic phenotype and macular degeneration
2015