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8 results
  1. Nonsyndromic aplasia cutis congenita: MedlinePlus Genetics 
    https://medlineplus.gov/.../nonsyndromic-aplasia-cutis-congenita
    ... skin lesions can occur as one of many symptoms in other conditions, including Johanson-Blizzard syndrome and Adams-Oliver syndrome . These instances are described ...
  2. xmlghr-summaries.xml 
    https://medlineplus.gov/download/ghr-summaries.xml
    ... skin lesions can occur as one of many symptoms in other conditions, including Johanson-Blizzard syndrome and Adams-Oliver syndrome. These instances are described ...
  3. Pancreatitis Overview - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK190101
    ... to thrive Dyslipidemia Adult-onset hyperammonemia w/neuropsychiatric symptoms Cystic ... syndrome (OMIM 243800 ) UBR1 AR Congenital exocrine pancreatic inflammation & ...
  4. Shwachman-Diamond Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1756
    ... dysfunction No bone marrow failure or neutropenia UBR1 Johanson-Blizzard syndrome (OMIM 243800 ) AR Exocrine pancreatic dysfunction Anomalies & severe ... the diagnosis) are recommended. Table 4. Shwachman-Diamond Syndrome: Recommended Evaluations Following ... in own window System/Concern Evaluation Comment ...