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Results 31 - 40 of 129 for Bone development disease
  1. Tarsal-carpal coalition syndrome 
    ... This protein plays an important role in proper bone and joint development by blocking (inhibiting) signals that stimulate bone formation. ... keeps the BMPs from triggering signals for the development of bone.NOG gene mutations that cause tarsal-carpal coalition ...
    https://medlineplus.gov/.../tarsal-carpal-coalition-syndrome - Genetics
  2. Jackson-Weiss syndrome 
    ... premature fusion of skull bones and affects the development of bones in the feet. FGFR2 This condition is inherited ... Deng CX. Roles of FGF signaling in skeletal development and human genetic diseases. Front Biosci. 2005 May 1;10:1961-76. ...
    https://medlineplus.gov/genetics/condition/jackson-weiss-syndrome - Genetics
  3. Cranioectodermal dysplasia 
    ... downward (upslanting or downslanting palpebral fissures) among others.Development of bones in the rest of the skeleton is also ... unclear, a loss of normal cilia impedes proper development of bone, ectodermal tissues, and other tissues and organs, leading ...
    https://medlineplus.gov/.../condition/cranioectodermal-dysplasia - Genetics
  4. Kniest dysplasia 
    ... collagen is essential for the normal growth and development of bones and other connective tissues.Many of the variants ... of functional type II collagen interferes with the development of bones and other connective tissues, which leads to the ...
    https://medlineplus.gov/genetics/condition/kniest-dysplasia - Genetics
  5. CHOPS syndrome 
    ... The super elongation complex (SEC) and MLL in development and disease. Genes Dev. 2011 Apr 1;25(7):661- ...
    https://medlineplus.gov/genetics/condition/chops-syndrome - Genetics
  6. Progressive osseous heteroplasia 
    ... role in signaling pathways that help regulate the development of bone (osteogenesis), preventing bony tissue from being produced outside ... on PubMed Shore EM, Kaplan FS. Inherited human diseases of heterotopic bone formation. Nat Rev Rheumatol. 2010 Sep;6(9): ...
    https://medlineplus.gov/.../progressive-osseous-heteroplasia - Genetics
  7. Knobloch syndrome 
    ... T. The multiple functions of collagen XVIII in development and disease. Matrix Biol. 2011 Mar;30(2):83-92. ...
    https://medlineplus.gov/genetics/condition/knobloch-syndrome - Genetics
  8. Coats plus syndrome 
    ... condition characterized by an eye disorder called Coats disease plus abnormalities of the brain, bones, gastrointestinal system, and other parts of the body. ...
    https://medlineplus.gov/genetics/condition/coats-plus-syndrome - Genetics
  9. Spondyloepiphyseal dysplasia with marked metaphyseal changes 
    ... collagen is essential for the normal growth and development of bones and other connective tissues.Most of the variants ...
    https://medlineplus.gov/...dysplasia-with-marked-metaphyseal-changes - Genetics
  10. Dupuytren contracture 
    ... J, Petit-Teixeira E. Genetics of Dupuytren's disease. Joint Bone Spine. 2012 Jan;79(1):7-12. doi: ...
    https://medlineplus.gov/genetics/condition/dupuytren-contracture - Genetics
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