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Results 1 - 10 of 56 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. FOXP2-related speech and language disorder 
    FOXP2-related speech and language disorder is a condition that affects the development of speech and language starting in early childhood. Affected individuals ...
    https://medlineplus.gov/...oxp2-related-speech-and-language-disorder - Genetics
  3. Progressive external ophthalmoplegia 
    ... PubMed Cohen BH, Chinnery PF, Copeland WC. POLG-Related Disorders. 2010 Mar 16 [updated 2024 Feb 29]. In: ... J, Taylor RW, Gorman GS. Adults with RRM2B-related mitochondrial disease have distinct clinical and molecular characteristics. Brain. 2012 ...
    https://medlineplus.gov/.../progressive-external-ophthalmoplegia - Genetics
  4. Congenital generalized lipodystrophy 
    ... generalized lipodystrophy is part of a group of related disorders known as lipodystrophies, which are all characterized by ... multiple cysts on the ovaries, which may be related to hormonal changes. Many people with this disorder develop acanthosis nigricans, a skin condition related to ...
    https://medlineplus.gov/.../congenital-generalized-lipodystrophy - Genetics
  5. 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
  6. 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
  7. Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 
    ... megalencephaly-polydactyly-polymicrogyria-hydrocephalus (MPPH) syndromes: two closely related disorders of brain overgrowth and abnormal brain and body ...
    https://medlineplus.gov/...ogyria-polydactyly-hydrocephalus-syndrome - Genetics
  8. Chromosome 14 
    ... cancers of immune system cells (lymphomas), and several related diseases. For example, Burkitt lymphoma, a cancer of white blood cells that occurs most often in children and young adults, is related to a translocation between chromosomes 8 and 14. ...
    https://medlineplus.gov/genetics/chromosome/14 - Genetics
  9. 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
  10. 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
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