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Results 1 - 10 of 22 for Abnormality of connective tissue
  1. FBN1 gene 
    ... RE. Association of mitral valve prolapse and systemic abnormalities of connective tissue. A phenotypic continuum. JAMA. 1989 Jul 28;262( ...
    https://medlineplus.gov/genetics/gene/fbn1 - Genetics
  2. ELN gene 
    ... of the ELN gene is associated with other connective tissue abnormalities, such as joint problems, soft skin, and mild ...
    https://medlineplus.gov/genetics/gene/eln - Genetics
  3. LEMD3 gene 
    ... The condition is characterized by skin growths called connective tissue nevi and bone abnormalities, most commonly osteopoikilosis. Osteopoikilosis refers to small, round ...
    https://medlineplus.gov/genetics/gene/lemd3 - Genetics
  4. SLC2A10 gene 
    ... signaling also interferes with normal formation of the connective tissues in other parts of the body, leading to the joint and skin abnormalities and other features of arterial tortuosity syndrome.Changes ...
    https://medlineplus.gov/genetics/gene/slc2a10 - Genetics
  5. TGFBR2 gene 
    ... how these changes result in the specific aortic abnormalities associated with familial ... affects connective tissue, which gives structure and support to blood vessels, ...
    https://medlineplus.gov/genetics/gene/tgfbr2 - Genetics
  6. FKBP10 gene 
    ... with Kuskokwim syndrome. It is unknown whether elastin abnormalities also contribute to the ... with another connective tissue disorder known as Bruck syndrome 1. This condition ...
    https://medlineplus.gov/genetics/gene/fkbp10 - Genetics
  7. EFEMP2 gene 
    ... skin, a lung disease called emphysema, and severe abnormalities involving the ... weakens connective tissue in the skin, blood vessels, lungs, and other ...
    https://medlineplus.gov/genetics/gene/efemp2 - Genetics
  8. TGFBR1 gene 
    ... Dietz syndrome type I. Loeys-Dietz syndrome affects connective tissue, which ... abnormalities and skeletal deformities. The TGFBR1 gene mutations that ...
    https://medlineplus.gov/genetics/gene/tgfbr1 - Genetics
  9. TGFB2 gene 
    ... Loeys-Dietz syndrome type IV. This disorder affects connective tissue, which ... abnormalities, heart defects, and skeletal deformities. The TGFB2 gene ...
    https://medlineplus.gov/genetics/gene/tgfb2 - Genetics
  10. TGFB3 gene 
    ... Loeys-Dietz syndrome type V. This disorder affects connective tissue, which ... abnormalities, heart defects, and skeletal deformities. The TGFB3 gene ...
    https://medlineplus.gov/genetics/gene/tgfb3 - Genetics
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