Hereditary Multiple Exostoses: Clinical, Molecular and Radiologic Survey in 9 Families

Hereditary multiple exostoses (HME) represents a heterogeneous group of diseases often associated with progressive skeletal deformities. Most frequently, mutations in EXT1 and EXT2 genes with autosomal dominant inheritance are responsible for HME. In our group of 9 families with HME we evaluated the...

Бүрэн тодорхойлолт

Номзүйн дэлгэрэнгүй

Үндсэн зохиолчид:	Karel Medek, Jiří Zeman, Tomáš Honzík, Hana Hansíková, Štěpánka Švecová, Kamila Beránková, Vendula Kučerová Vidrová, Miloslav Kuklík, Jiří Chomiak, Markéta Tesařová
Формат:	Artigo
Хэл сонгох:	Inglês
Хэвлэсэн:	Karolinum Press 2017-09-01
Цуврал:	Prague Medical Report
Нөхцлүүд:	Multiple exostoses EXT1 EXT2
Онлайн хандалт:	https://pmr.lf1.cuni.cz/118/2/0087/
Шошгууд:	Шошго нэмэх Шошго байхгүй, Энэхүү баримтыг шошголох эхний хүн болох!