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Results 1 - 3 of 3 for Shprintzen syndrome
  1. SKI gene 
    ... SKI gene have been found in people with Shprintzen-Goldberg syndrome, a condition characterized by distinctive facial features, skeletal ... the wide range of signs and symptoms of Shprintzen-Goldberg syndrome. More About This Health Condition proto-oncogene c- ...
    https://medlineplus.gov/genetics/gene/ski - Genetics
  2. TBX1 gene 
    ... or Free article on PubMed Central Baldini A. DiGeorge syndrome: an update. Curr Opin Cardiol. 2004 May;19( ... localization signal in Tbx1 that is deleted in DiGeorge syndrome patients harboring the 1223delC mutation. Hum Mol Genet. ...
    https://medlineplus.gov/genetics/gene/tbx1 - Genetics
  3. FBN1 gene 
    ... This Health Condition MedlinePlus Genetics provides information about Shprintzen-Goldberg syndrome More About This Health Condition Mutations in the ...
    https://medlineplus.gov/genetics/gene/fbn1 - Genetics