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Results 11 - 20 of 129 for Skeletal dysplasia
  1. COL2A1 gene 
    ... have been identified in people with platyspondylic lethal skeletal dysplasia, Torrance type. This severe disorder of bone growth ... back (lordosis).The variants associated with platyspondylic lethal skeletal dysplasia, Torrance type occur in a region of the ...
    https://medlineplus.gov/genetics/gene/col2a1 - Genetics
  2. Anauxetic dysplasia 
    ... Heath KE. Broadening the phenotypic spectrum of POP1-skeletal dysplasias: identification of POP1 mutations in a mild and severe skeletal dysplasia. Clin Genet. 2017 Jul;92(1):91-98. ...
    https://medlineplus.gov/genetics/condition/anauxetic-dysplasia - Genetics
  3. CHST3 gene 
    ... gene have been found to cause CHST3-related skeletal dysplasia, a condition characterized by progressive bone and joint ... dislocations, and the other features of CHST3-related skeletal dysplasia. More About This Health Condition C6ST C6ST-1 ...
    https://medlineplus.gov/genetics/gene/chst3 - Genetics
  4. TRPV4 gene 
    ... Zankl A, Lamande SR, Savarirayan R. TRPV4 related skeletal dysplasias: a phenotypic spectrum highlighted byclinical, radiographic, and molecular ... S, Superti-Furga A, Unger S. TRPV4-associated skeletal dysplasias. Am J Med Genet C Semin Med Genet. ...
    https://medlineplus.gov/genetics/gene/trpv4 - Genetics
  5. Pfeiffer syndrome 
    ... disorder. Acrocephalosyndactyly, type V ACS V ACS5 Craniofacial-skeletal-dermatologic dysplasia Noack syndrome Genetic Testing Registry: Pfeiffer syndrome Pfeiffer ...
    https://medlineplus.gov/genetics/condition/pfeiffer-syndrome - Genetics
  6. Osteochondrodysplasias (Merck & Co., Inc.)  
    Cartilage Disorders/Specifics ... Cartilage Disorders ... Merck & Co., Inc. ... Osteochondrodysplasias - Learn about the causes, symptoms, diagnosis & treatment from the Merck ...
    https://www.merckmanuals.com/.../osteochondrodysplasias - External Health Links
  7. Dwarfism (For Parents) (Nemours Foundation)  
    ... epiphyseal dysplasia, ellis-van creveld dysplasia, diastrophic dysplasia, skeletal dysplasia, hypoplasia, dysplasia, cartilage, dwarfism, little people, dwarf, midget, ...
    https://kidshealth.org/en/parents/dwarfism.html - External Health Links
  8. Kniest Dysplasia (For Parents) (Nemours Foundation)  
    Kniest Dysplasia, skeletal dysplasia, bone and cartilage, swiss cheese cartilage syndrome, pseudometatropic, metatropic dysplasia type II, cartilage dysplasia, skeletal problems, skeletal dysplasia, ...
    https://kidshealth.org/en/parents/kniest-dysplasia.html - External Health Links
  9. Spondyloepiphyseal Dysplasia Congenita (SEDc) (For Parents) (Nemours Foundation)  
    Spondyloepiphyseal Dysplasia Congenita, SEDc, sedc, skeletal dysplasia, Spondyloepiphyseal Dysplasia, Congenital Type, dwarfism, dwarf, bone and cartilage, Spondyloepiphyseal Dysplasia, Congenital, swiss cheese cartilage syndrome, pseudometatropic, metatropic dysplasia type II, ...
    https://kidshealth.org/en/parents/sedc-dysplasia.html - External Health Links
  10. Dwarfism (Nemours Foundation)  
    Dwarfism/Teenagers ... Dwarfism ... dwarf, dwarfs, short-statured, short stature, little person, short, achrondroplasia, diastrophic, spondyloepiphyseal, dysplasia, ...
    https://kidshealth.org/en/teens/dwarfism.html - External Health Links
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