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Results 1 - 10 of 33 for robert syndrome related disorders
  1. KRAS gene 
    ... PubMed Quezada E, Gripp KW. Costello syndrome and related disorders. ... clinical features, diagnosis, and management guidelines. Pediatrics. 2010 ...
    https://medlineplus.gov/genetics/gene/kras - Genetics
  2. COL1A1 gene 
    ... hyperostosis (Caffey disease) expands the spectrum of collagen-related disorders. J Clin Invest. 2005 May;115(5):1250- ...
    https://medlineplus.gov/genetics/gene/col1a1 - Genetics
  3. PTPN11 gene 
    ... PubMed Tartaglia M, Gelb BD. Noonan syndrome and related disorders: genetics and pathogenesis. Annu Rev Genomics Hum Genet. ...
    https://medlineplus.gov/genetics/gene/ptpn11 - Genetics
  4. RAF1 gene 
    ... clinical analysis of RAF1 in Noonan syndrome and related disorders: dephosphorylation of serine 259 as the essential mechanism ...
    https://medlineplus.gov/genetics/gene/raf1 - Genetics
  5. PRKAG2 gene 
    ... on PubMed Gollob MH, Green MS, Tang AS, Roberts R. PRKAG2 cardiac syndrome: familial ventricular preexcitation, conduction system disease, and cardiac hypertrophy. Curr Opin Cardiol. 2002 May; ...
    https://medlineplus.gov/genetics/gene/prkag2 - Genetics
  6. BSCL2 gene 
    ... Sep 12. Citation on PubMed Ito D. BSCL2-Related Neurologic Disorders / Seipinopathy. 2005 Dec 6 [updated 2018 May 24]. ...
    https://medlineplus.gov/genetics/gene/bscl2 - Genetics
  7. RRM2B gene 
    ... J, Taylor RW, Gorman GS. Adults with RRM2B-related mitochondrial disease have distinct clinical and molecular characteristics. Brain. 2012 ...
    https://medlineplus.gov/genetics/gene/rrm2b - Genetics
  8. BRAF gene 
    ... of somatic mutations in Langerhans cell histiocytosis and related histiocytic neoplastic disorders. Hematology Am Soc Hematol Educ Program. 2015;2015: ...
    https://medlineplus.gov/genetics/gene/braf - Genetics
  9. ESCO2 gene 
    ... Researchers originally suspected that the varying severity of Roberts syndrome was caused by different types of mutations in the ESCO2 gene. They predicted that people with the mild form of the disorder would have mutations that reduced the activity of ...
    https://medlineplus.gov/genetics/gene/esco2 - Genetics
  10. PLAGL1 gene 
    ... hypomethylation). Approximately 20 percent of cases of 6q24-related transient neonatal diabetes mellitus are caused by maternal hypomethylation. Some people with this disorder have a genetic change in the maternal copy ...
    https://medlineplus.gov/genetics/gene/plagl1 - Genetics
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