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Results 1 - 9 of 9 for Larsen syndrome
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  1. FLNB gene 
    ... FLNB gene mutations have been identified that cause Larsen syndrome, a disorder that affects the development of bones ... and leading to the signs and symptoms of Larsen syndrome.It is not clear why similar mutations in ...
    https://medlineplus.gov/genetics/gene/flnb - Genetics
  2. CHST3 gene 
    ... caused by carbohydrate sulfotransferase 3 deficiency in recessive Larsen syndrome and humero-spinal dysostosis. Am J Hum Genet. ...
    https://medlineplus.gov/genetics/gene/chst3 - Genetics
  3. SMAD4 gene 
    ... update in 80 unrelated families with juvenile polyposis syndrome. J Med Genet. 2007 ... S, Pechman B, Bair J, Larsen-Haidle J, Howe JR. The rate of germline ...
    https://medlineplus.gov/genetics/gene/smad4 - Genetics
  4. BMPR1A gene 
    ... update in 80 unrelated families with juvenile polyposis syndrome. J Med Genet. 2007 ... S, Pechman B, Bair J, Larsen-Haidle J, Howe JR. The rate of germline ...
    https://medlineplus.gov/genetics/gene/bmpr1a - Genetics
  5. RNF216 gene 
    ... H. TRIAD3/RNF216 mutations associated with Gordon Holmes syndrome lead to ... HS, Wall MJ, Robinson CG, Larsen RS, Qiang Y, Correa SA, Ehlers MD. Triad3A ...
    https://medlineplus.gov/genetics/gene/rnf216 - Genetics
  6. GRIN2A gene 
    ... R, Fejerman N, Weckhuysen S, De Jonghe P, Larsen J, Moller RS, Hjalgrim H, Addis L, Tang ...
    https://medlineplus.gov/genetics/gene/grin2a - Genetics
  7. MTOR gene 
    ... P, Ferrand-Sorbets S, Dorfmuller G, Lambrecq V, Larsen LH, Leguern E, Guerrini R, Rubboli G, Cooper ... Li Y, Yigit G, Wollnik B. Smith-Kingsmore syndrome: A third family with the MTOR mutation c. ...
    https://medlineplus.gov/genetics/gene/mtor - Genetics
  8. MED13L gene 
    ... T, Satre V, Santani A, Stefanova M, Steinwall Larsen S, Saugier-Veber P, Picker-Minh S, Thuillier ... Haaften G. Further confirmation of the MED13L haploinsufficiency syndrome. Eur J Hum Genet. 2015 Jan;23(1): ...
    https://medlineplus.gov/genetics/gene/med13l - Genetics
  9. SUCLA2 gene 
    ... Hansen FJ, Sorensen N, Duno M, Vissing J, Larsen PL, Faeroe O, Thorgrimsson S, Wibrand F, Christensen ...
    https://medlineplus.gov/genetics/gene/sucla2 - Genetics