A patient showing features of both SBBYSS and GPS supports the concept of a KAT6B-related disease spectrum, with mutations in mid-exon 18 possibly leading to combined phenotypes
| Title: | A patient showing features of both SBBYSS and GPS supports the concept of a KAT6B-related disease spectrum, with mutations in mid-exon 18 possibly leading to combined phenotypes |
|---|---|
| Authors: | Vlckova, Marketa, Simandlova, Martina, Zimmermann, Pavel, Stranecky, Viktor, Hartmannova, Hana, Hodanova, Katerina, Havlovicova, Marketa, Hancarova, Miroslava, Kmoch, Stanislav, Sedlacek, Zdenek |
| Source: | In European Journal of Medical Genetics October 2015 58(10):550-555 |
| Database: | ScienceDirect |
| ISSN: | 17697212 |
|---|---|
| DOI: | 10.1016/j.ejmg.2015.09.004 |
| Published in: | European Journal of Medical Genetics |
| Language: | English |