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29 results
  1. 22q11.2 Deletion Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1523
    ... own window 22q11.2 Deletion Syndrome: Included Phenotypes DiGeorge syndrome Velocardiofacial syndrome Conotruncal anomaly face syndrome Autosomal dominant ...
  2. 22q11.2 deletion syndrome: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/condition/22q112-deletion-syndrome
    ... described as separate conditions. Doctors named these conditions DiGeorge syndrome, velocardiofacial syndrome (also called Shprintzen syndrome), and conotruncal ...
  3. TBX1 gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/tbx1
    ... or Free article on PubMed Central Baldini A. DiGeorge syndrome: an update. Curr Opin Cardiol. 2004 May;19( ... 00001573-200405000-00002. Citation on PubMed Baldini A. DiGeorge's syndrome: a gene at last. Lancet. 2003 Oct 25; ...
  4. Immune System and Disorders | Autoimmune Disease | MedlinePlus 
    https://medlineplus.gov/immunesystemanddisorders.html
    ... Syndromes (National Institute of Allergy and Infectious Diseases) DiGeorge Syndrome (DGS) (American Academy of Allergy, Asthma, and Immunology) ... and Infectious Diseases Children 22q11.2 Deletion Syndrome (DiGeorge Syndrome) (For Parents) (Nemours Foundation) Also in Spanish Repeated ...
  5. B and T cell screen 
    https://medlineplus.gov/ency/article/003329.htm
    ... count may be due to: Chronic lymphocytic leukemia DiGeorge syndrome Multiple myeloma Waldenström macroglobulinemia A decreased T cell ... T-cell deficiency disease, such as Nezelof syndrome, DiGeorge syndrome, or Wiskott-Aldrich syndrome Acquired T-cell deficiency ...
  6. xmlghr-summaries.xml 
    https://medlineplus.gov/download/ghr-summaries.xml
    ... described as separate conditions. Doctors named these conditions DiGeorge syndrome, velocardiofacial syndrome (also called Shprintzen syndrome), and conotruncal ...
  7. Spondylocostal Dysostosis, Autosomal Recessive - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK8828
    ... Currarino syndrome 176450 MNX1 22q11.2 deletion syndrome (DiGeorge syndrome / velocardiofacial syndrome) 188400 , 192430 Dyssegmental dysplasia, Rolland-Desbuquois ...
  8. Cleft Lip and Palate 
    https://medlineplus.gov/cleftlipandpalate.html
    During early pregnancy stages your child may develop cleft lip or cleft palate. Find out when you should have surgery to fix the cleft lip and palate. ...
  9. Short philtrum 
    https://medlineplus.gov/ency/article/003302.htm
    ... caused by: Chromosome 18q deletion syndrome Cohen syndrome DiGeorge syndrome Oral-facial-digital syndrome (OFD)
  10. Congenital Heart Defects 
    https://medlineplus.gov/congenitalheartdefects.html
    Congenital heart defects, problems with the structure of the heart, are the most common type of birth defect. Learn about diagnosis and treatment. ... What ...
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