Associated Papers
Mutational analysis of consanguineous families and their targeted therapy against dwarfism.
Khan F et al.
Journal of Biomolecular Structure & Dynamics, 2025
A novel deletion variant in TRAPPC2 causes spondyloepiphyseal dysplasia tarda in a five-generation Chinese family.
Zhang C et al.
Bmc Medical Genetics, 2020
Novel and Recurrent Mutations in the FGFR3 Gene and Double Heterozygosity Cases in a Cohort of Brazilian Patients with Skeletal Dysplasia.
Gomes MES et al.
Molecular Syndromology, 2018
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