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Results 1 - 10 of 19 for Larsen syndrome
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  1. Larsen syndrome 
    Larsen syndrome is a disorder that affects the development of bones throughout the body. The signs and symptoms of Larsen syndrome vary widely even within the same family. Affected ...
    https://medlineplus.gov/genetics/condition/larsen-syndrome - Genetics
  2. CHST3-related skeletal dysplasia 
    ... condition. It is sometimes known as autosomal recessive Larsen syndrome based on its similarity to another skeletal disorder called Larsen syndrome. Other names that have been used to describe ...
    https://medlineplus.gov/.../chst3-related-skeletal-dysplasia - Genetics
  3. 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
  4. 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
  5. Bernard-Soulier syndrome 
    ... Gudmundsdottir BR, Hilmarsdottir B, Vidarsson B, Magnusson MK, Larsen OH, Sorensen B, Ingerslev J, Onundarson PT. Clinical phenotype in heterozygote and biallelic Bernard-Soulier syndrome--a case control study. Am J Hematol. 2015 ...
    https://medlineplus.gov/genetics/condition/bernard-soulier-syndrome - Genetics
  6. Juvenile polyposis syndrome 
    ... Cerqueira D, Chinnathambi S, Pechman B, Bair J, Larsen-Haidle J, Howe JR. The ... of juvenile polyposis syndrome. J Gastroenterol Hepatol. 2005 Nov;20(11):1634- ...
    https://medlineplus.gov/.../condition/juvenile-polyposis-syndrome - Genetics
  7. 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
  8. 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
  9. MED13L syndrome 
    ... T, Satre V, Santani A, Stefanova M, Steinwall Larsen S, Saugier-Veber P, Picker-Minh S, Thuillier ...
    https://medlineplus.gov/genetics/condition/med13l-syndrome - Genetics
  10. SUCLA2-related mitochondrial DNA depletion syndrome 
    ... Hansen FJ, Sorensen N, Duno M, Vissing J, Larsen PL, Faeroe O, Thorgrimsson S, Wibrand F, Christensen ...
    https://medlineplus.gov/...ated-mitochondrial-dna-depletion-syndrome - Genetics
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