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
Titel:
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
Auteur:
Vlckova, Marketa Simandlova, Martina Zimmermann, Pavel Stranecky, Viktor Hartmannova, Hana Hodanova, Katerina Havlovicova, Marketa Hancarova, Miroslava Kmoch, Stanislav Sedlacek, Zdenek