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Results 1 - 6 of 6 for Spinal dysplasia
  1. TMCO1 gene 
    ... bone abnormalities that primarily involve the ribs and spinal bones (vertebrae). The gene mutations that cause cerebro-facio-thoracic dysplasia lead to production of abnormally short TMCO1 proteins ...
    https://medlineplus.gov/genetics/gene/tmco1 - Genetics
  2. TRPV4 gene 
    ... DOMINANT 8; HMND8 SPONDYLOEPIPHYSEAL DYSPLASIA, MAROTEAUX TYPE SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE; SMDK SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY; SPSMA TRANSIENT RECEPTOR POTENTIAL CATION CHANNEL, ...
    https://medlineplus.gov/genetics/gene/trpv4 - Genetics
  3. CHST3 gene 
    ... 3 deficiency in recessive Larsen syndrome and humero-spinal dysostosis. Am J Hum Genet. 2008 Jun;82( ... function results in severe human chondrodysplasia with progressive spinal involvement. Proc Natl Acad Sci U S A. ...
    https://medlineplus.gov/genetics/gene/chst3 - Genetics
  4. COL11A2 gene 
    ... AJ. Genetic associations in peripheral joint osteoarthritis and spinal degenerative disease: a systematic review. Ann Rheum Dis. ...
    https://medlineplus.gov/genetics/gene/col11a2 - Genetics
  5. TUBB3 gene 
    ... the upper parts of the brain with the spinal cord and regulates many basic body functions. Affected ... of TUBB3 PubMed TUBULIN, BETA-3; TUBB3 CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1; CDCBM1 NCBI ...
    https://medlineplus.gov/genetics/gene/tubb3 - Genetics
  6. PAX2 gene 
    ... the formation of the eyes, ears, brain and spinal cord (central nervous system), kidneys, urinary tract, and ... Schimmenti LA, Manligas GS, Sieving PA. Optic nerve dysplasia and renal insufficiency in a family with a ...
    https://medlineplus.gov/genetics/gene/pax2 - Genetics