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Results 1 - 10 of 35 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. 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
  3. 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
  4. 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
  5. 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
  6. Nager syndrome 
    ... Siu V, Lauzon J, Fernandez BA, McMillin M, Scott RH, Racher H; FORGE Canada Consortium; Majewski J, Nickerson DA, Shendure J, Bamshad MJ, Parboosingh JS. Haploinsufficiency of SF3B4, a component of the pre-mRNA spliceosomal complex, causes Nager syndrome. Am J Hum Genet. 2012 May 4;90( ...
    https://medlineplus.gov/genetics/condition/nager-syndrome - Genetics
  7. Costello syndrome 
    ... Gripp KW, Lin AE, Stabley DL, Nicholson L, Scott CI Jr, Doyle D, Aoki Y, Matsubara Y, Zackai EH, Lapunzina P, Gonzalez-Meneses A, Holbrook J, Agresta CA, Gonzalez IL, Sol-Church K. HRAS mutation analysis in Costello syndrome: genotype and phenotype correlation. Am J Med Genet ...
    https://medlineplus.gov/genetics/condition/costello-syndrome - Genetics
  8. Shprintzen-Goldberg syndrome 
    ... Huso ND, Leahy D, Mohr DW, Caulfield MJ, Scott AF, Destree A, Hennekam RC, Arn PH, Curry CJ, Van Laer L, McCallion AS, Loeys BL, Dietz HC. Mutations in the TGF-beta repressor SKI cause Shprintzen-Goldberg syndrome with aortic aneurysm. Nat Genet. 2012 Nov;44( ...
    https://medlineplus.gov/.../condition/shprintzen-goldberg-syndrome - Genetics
  9. Peutz-Jeghers syndrome 
    ... Boardman LA, Gille JJ, Keller JJ, Westerman AM, Scott RJ, Lim W, Trimbath JD, ... in the Peutz-Jeghers syndrome. Clin Cancer Res. 2006 May 15;12(10): ...
    https://medlineplus.gov/genetics/condition/peutz-jeghers-syndrome - Genetics
  10. Hutchinson-Gilford progeria syndrome 
    ... Brown WT, Gordon LB, Glynn MW, Singer J, Scott L, Erdos MR, Robbins CM, Moses TY, Berglund P, Dutra A, Pak E, Durkin S, Csoka AB, Boehnke M, Glover TW, Collins FS. Recurrent de novo point mutations in lamin A cause Hutchinson-Gilford progeria syndrome. Nature. 2003 May 15;423(6937):293-8. ...
    https://medlineplus.gov/.../hutchinson-gilford-progeria-syndrome - Genetics
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