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Results 1 - 6 of 6 for Sotos syndrome
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  1. Sotos syndrome 
    Sotos syndrome is a disorder characterized by a distinctive facial appearance, overgrowth in childhood, and learning disabilities or delayed development of ...
    https://medlineplus.gov/genetics/condition/sotos-syndrome - Genetics
  2. 19p13.13 deletion syndrome 
    ... E, Ploski R, Krajewska-Walasek M. Malan syndrome (Sotos syndrome 2) in two patients with 19p13.2 deletion ... on nonsense-mediated mRNA decay engender either a Sotos-like or a Marshall-Smith syndrome. Am J Hum Genet. 2010 Aug 13;87( ...
    https://medlineplus.gov/genetics/condition/19p1313-deletion-syndrome - Genetics
  3. NSD1 gene 
    ... NSD1 gene have been identified in people with Sotos syndrome. The most common mutation in the Japanese population ... disabilities, and the other signs and symptoms of Sotos syndrome. More About This Health Condition A change involving ...
    https://medlineplus.gov/genetics/gene/nsd1 - Genetics
  4. Coffin-Lowry syndrome 
    ... PubMed or Free article on PubMed Central Herrera-Soto JA, Santiago-Cornier A, Segal LS, Ramirez N, Tamai J. The musculoskeletal manifestations of the Coffin-Lowry syndrome. J Pediatr Orthop. 2007 Jan-Feb;27(1): ...
    https://medlineplus.gov/genetics/condition/coffin-lowry-syndrome - Genetics
  5. KCNQ1 gene 
    ... Brugada J, Oliva A, Burashnikov E, Santos-de-Soto J, Grueso-Montero J, Diaz-Enfante E, Brugada P, Sachse F, Sanguinetti MC, Brugada R. De novo KCNQ1 mutation responsible for atrial fibrillation and short QT syndrome in utero. Cardiovasc Res. 2005 Dec 1;68( ...
    https://medlineplus.gov/genetics/gene/kcnq1 - Genetics
  6. DCTN1 gene 
    ... Citation on PubMed Vilarino-Guell C, Wider C, Soto-Ortolaza ... the genetics and pathology of Perry syndrome. J Neurol Sci. 2010 Feb 15;289(1- ...
    https://medlineplus.gov/genetics/gene/dctn1 - Genetics