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Results 1 - 5 of 5 for Shprintzen syndrome
  1. Shprintzen-Goldberg syndrome 
    Shprintzen-Goldberg syndrome is a disorder that affects many parts of the body. Affected individuals have a combination of distinctive facial features and skeletal ...
    https://medlineplus.gov/.../condition/shprintzen-goldberg-syndrome - Genetics
  2. 22q11.2 deletion syndrome 
    ... these conditions DiGeorge syndrome, velocardiofacial syndrome (also called Shprintzen syndrome), and conotruncal anomaly face syndrome. In addition, some ...
    https://medlineplus.gov/genetics/condition/22q112-deletion-syndrome - Genetics
  3. 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
  4. 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
  5. 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