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Metaphyseal chondrodysplasia, Schmid type. Clinical and radiographic delineation with a review of the literature.
Lachman RS, Rimoin DL, Spranger J. Lachman RS, et al. Pediatr Radiol. 1988;18(2):93-102. doi: 10.1007/BF02387549. Pediatr Radiol. 1988. PMID: 3281118 Review.
Analysis of 20 cases of metaphyseal chondrodysplasia, Schmid type as well as a review of the world literature reveals a specific autosomal dominant disorder that was often over-diagnosed in the past, sometimes resulting in incorrect genetic counselling …
Analysis of 20 cases of metaphyseal chondrodysplasia, Schmid type as well as a review of the world literature re …
The evolving therapeutic landscape of genetic skeletal disorders.
Sabir AH, Cole T. Sabir AH, et al. Orphanet J Rare Dis. 2019 Dec 30;14(1):300. doi: 10.1186/s13023-019-1222-2. Orphanet J Rare Dis. 2019. PMID: 31888683 Free PMC article. Review.
Treatments discussed are at different stages from preclinical studies to clinical trials and approved drugs, including; Burosumab for X-linked hypophosphatemia, Palovarotene for Hereditary Multiple Exostoses, Carbamazepine for Metaphyseal Chondrodysplasia (Schmid
Treatments discussed are at different stages from preclinical studies to clinical trials and approved drugs, including; Burosumab for X-link …
[Bone dysplasia with short limb].
Kobayashi D, Satsuma S. Kobayashi D, et al. Clin Calcium. 2008 Dec;18(12):1786-91. Clin Calcium. 2008. PMID: 19043194 Review. Japanese.
We described the condition of the disease, clinical appearance, X-rays appearance, orthopaedic problems about Achondroplasia, Pseudoachondroplasia, Metaphyseal Chondrodysplasia (Schmid type) , Mesomelic dysplasia (Dyschondrosteosis) as a representative …
We described the condition of the disease, clinical appearance, X-rays appearance, orthopaedic problems about Achondroplasia, Pseudoachondro …