Article: article from journal or magazin.
Case report (case report): feedback on an observation with a short commentary.
A recurrent R718W mutation in COMP results in multiple epiphyseal dysplasia with mild myopathy: clinical and pathogenetic overlap with collagen IX mutations
Journal of Medical Genetics
Letter Research Support, Non-U.S. Gov't --- Old month value: Dec
Amino Acid Substitution Bone and Bones/pathology/radiography Child Collagen Type IX/genetics DNA Mutational Analysis Extracellular Matrix Proteins/*genetics Female *Genetic Predisposition to Disease Glycoproteins/*genetics Humans Magnetic Resonance Imaging Male Muscle Weakness/diagnosis/*genetics *Mutation Osteochondrodysplasias/*diagnosis/*genetics/pathology Pedigree
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