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Results 1 - 10 of 10 for Hypoplasia of the ear cartilage
  1. SLC26A2 gene 
    ... and is present in the nose and external ears.Cartilage cells use sulfate ions transported by the SLC26A2 ... microscope. Because much of the skeleton develops from cartilage before ... skeletal abnormalities seen in achondrogenesis type 1B. More About This ...
    https://medlineplus.gov/genetics/gene/slc26a2 - Genetics
  2. COL2A1 gene 
    ... normal development of joints, eyes, and the inner ear. Type II collagen is found primarily in cartilage, a tough, flexible tissue that makes up much ... that is present in the nose and external ears. Type II collagen is particularly ... in a form of cartilage known as hyaline cartilage, which is found in ...
    https://medlineplus.gov/genetics/gene/col2a1 - Genetics
  3. CHST3 gene 
    ... and is present in the nose and external ears.The C6ST-1 enzyme modifies molecules called chondroitin sulfate proteoglycans, which are abundant in cartilage and give this tissue its rubbery, gel-like ...
    https://medlineplus.gov/genetics/gene/chst3 - Genetics
  4. HSPG2 gene 
    ... is later converted to bone, except for the cartilage that continues to cover and protect the ends of bones and is present in the nose and external ears.Perlecan is a heparan sulfate proteoglycan, which is ...
    https://medlineplus.gov/genetics/gene/hspg2 - Genetics
  5. COL11A2 gene 
    ... is later converted to bone, except for the cartilage that continues to cover and protect the ends of bones and is present in the nose and external ears. Type XI collagen made with the pro-alpha2( ...
    https://medlineplus.gov/genetics/gene/col11a2 - Genetics
  6. COL11A1 gene 
    ... is later converted to bone, except for the cartilage that continues to cover and protect the ends of bones and is present in the nose and external ears. Type XI collagen is also part of the ...
    https://medlineplus.gov/genetics/gene/col11a1 - Genetics
  7. TRIP11 gene 
    ... is later converted to bone, except for the cartilage that continues to cover and protect the ends of bones and is present in the nose and external ears. Several variants (also called mutations) in the TRIP11 ...
    https://medlineplus.gov/genetics/gene/trip11 - Genetics
  8. RUNX2 gene 
    ... bone (a process called ossification), except for the cartilage that continues to cover and protect the ends of bones and is present in the nose, airways, and external ears.The RUNX2 protein is a transcription factor, which ...
    https://medlineplus.gov/genetics/gene/runx2 - Genetics
  9. SF3B4 gene 
    ... the maturation of cells that build bones and cartilage (osteoblasts and chondrocytes). More than 30 mutations in the SF3B4 gene have been found to cause Nager syndrome, which is primarily characterized by abnormalities of the face, hands, and arms, such as ...
    https://medlineplus.gov/genetics/gene/sf3b4 - Genetics
  10. FGFR3 gene 
    ... the top of the head from ear to ear (the coronal suture). People with isolated coronal craniosynostosis do not have the other features that are sometimes associated with Muenke syndrome (such as hand and foot abnormalities). More About This Health Condition One variant in ...
    https://medlineplus.gov/genetics/gene/fgfr3 - Genetics