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Results 1 - 6 of 6 for Pai syndrome
  1. Alagille syndrome 
    ... PubMed McDaniell R, Warthen DM, Sanchez-Lara PA, Pai A, Krantz ID, Piccoli DA, Spinner NB. NOTCH2 mutations cause Alagille syndrome, a heterogeneous disorder of the notch signaling pathway. ...
    https://medlineplus.gov/genetics/condition/alagille-syndrome - Genetics
  2. NOTCH2 gene 
    ... PubMed McDaniell R, Warthen DM, Sanchez-Lara PA, Pai A, Krantz ID, Piccoli DA, Spinner NB. NOTCH2 mutations cause Alagille syndrome, a heterogeneous disorder of the notch signaling pathway. ...
    https://medlineplus.gov/genetics/gene/notch2 - Genetics
  3. Roberts syndrome 
    ... on PubMed Schule B, Oviedo A, Johnston K, Pai S, Francke U. Inactivating mutations in ESCO2 cause SC phocomelia and Roberts syndrome: no phenotype-genotype correlation. Am J Hum Genet. ...
    https://medlineplus.gov/genetics/condition/roberts-syndrome - Genetics
  4. ESCO2 gene 
    ... on PubMed Schule B, Oviedo A, Johnston K, Pai S, Francke U. Inactivating mutations in ESCO2 cause SC phocomelia and Roberts syndrome: no phenotype-genotype correlation. Am J Hum Genet. ...
    https://medlineplus.gov/genetics/gene/esco2 - Genetics
  5. Lipoid proteinosis 
    ... 95447. Citation on PubMed Kabre V, Rani S, Pai KM, Kamra S. Lipoid proteinosis: A review with ...
    https://medlineplus.gov/genetics/condition/lipoid-proteinosis - Genetics
  6. Agammaglobulinemia 
    ... 26th ed. Philadelphia, PA: Elsevier; 2020:chap 236. Pai SY, Notarangelo LD. Congenital disorders of lymphocyte function. ...
    https://medlineplus.gov/ency/article/001307.htm - Medical Encyclopedia