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Results 1 - 10 of 81 for SCOTT SYNDROME
  1. Aarskog-Scott syndrome 
    Aarskog-Scott syndrome is a genetic disorder that affects the development of many parts of the body, most commonly the head and face, the hands and feet, and ...
    https://medlineplus.gov/genetics/condition/aarskog-scott-syndrome - Genetics
  2. FGD1 gene 
    ... FGD1 gene have been found to cause Aarskog-Scott syndrome, a rare condition that occurs primarily in males. ... of abnormalities that occur in people with Aarskog-Scott syndrome. More About This Health Condition AAS faciogenital dysplasia ...
    https://medlineplus.gov/genetics/gene/fgd1 - Genetics
  3. Wagner syndrome 
    ... on PubMed Meredith SP, Richards AJ, Flanagan DW, Scott JD, Poulson AV, Snead MP. Clinical characterisation and molecular analysis of Wagner syndrome. Br J Ophthalmol. 2007 May;91(5):655- ...
    https://medlineplus.gov/genetics/condition/wagner-syndrome - Genetics
  4. COL2A1 gene 
    ... Yates JR, Lane C, Nicol M, Harper PS, Scott JD, Snead MP. Variation in the vitreous phenotype of Stickler syndrome can be caused by different amino acid substitutions ...
    https://medlineplus.gov/genetics/gene/col2a1 - Genetics
  5. Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart 
    ... van Gassen KLI, van Binsbergen E, Barkovich AJ, Scott DA, Sherr EH. De Novo Mutations of RERE Cause a Genetic Syndrome with Features that Overlap Those Associated with Proximal ...
    https://medlineplus.gov/...thout-anomalies-of-the-brain-eye-or-heart - Genetics
  6. RERE gene 
    ... van Gassen KLI, van Binsbergen E, Barkovich AJ, Scott DA, Sherr EH. De Novo Mutations of RERE Cause a Genetic Syndrome with Features that Overlap Those Associated with Proximal ...
    https://medlineplus.gov/genetics/gene/rere - Genetics
  7. SLC26A4 gene 
    ... ng0398-215. No abstract available. Citation on PubMed Scott DA, Wang R, Kreman TM, Sheffield VC, Karniski LP. The Pendred syndrome gene encodes a chloride-iodide transport protein. Nat ...
    https://medlineplus.gov/genetics/gene/slc26a4 - Genetics
  8. VLDLR-associated cerebellar hypoplasia 
    ... Bonnemann C, Herz J, Neuert S, Beaulieu C, Scott JN, Venkatasubramanian A, Parboosingh JS. Mutations in VLDLR as a cause for autosomal recessive cerebellar ataxia with mental retardation (dysequilibrium syndrome). J Child Neurol. 2009 Oct;24(10):1310- ...
    https://medlineplus.gov/.../vldlr-associated-cerebellar-hypoplasia - Genetics
  9. Jackson-Weiss syndrome 
    ... 1266. Citation on PubMed Jabs EW, Li X, Scott AF, Meyers G, Chen W, Eccles M, Mao JI, Charnas LR, Jackson CE, Jaye M. Jackson-Weiss and Crouzon syndromes are allelic with mutations in fibroblast growth factor ...
    https://medlineplus.gov/genetics/condition/jackson-weiss-syndrome - Genetics
  10. VLDLR gene 
    ... Bonnemann C, Herz J, Neuert S, Beaulieu C, Scott JN, Venkatasubramanian A, Parboosingh JS. Mutations in VLDLR as a cause for autosomal recessive cerebellar ataxia with mental retardation (dysequilibrium syndrome). J Child Neurol. 2009 Oct;24(10):1310- ...
    https://medlineplus.gov/genetics/gene/vldlr - Genetics
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