Associated Papers
EXT1 and EXT2 Variants in 22 Chinese Families With Multiple Osteochondromas: Seven New Variants and Potentiation of Preimplantation Genetic Testing and Prenatal Diagnosis.
Wang Y et al.
Frontiers in Genetics, 2020
Clinical and molecular studies of EXT1/EXT2 in Bulgaria.
Stancheva-Ivanova MK et al.
Journal of Inherited Metabolic Disease, 2011
Evaluation of the anatomic burden of patients with hereditary multiple exostoses.
Alvarez CM et al.
Clinical Orthopaedics and Related Research, 2007
Hailey-Hailey disease: identification of novel mutations in ATP2C1 and effect of missense mutation A528P on protein expression levels.
Fairclough RJ et al.
The Journal of Investigative Dermatology, 2004
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