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7 results
  1. 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 ... SBDS database SBDSbase: Mutation registry for Shwachman-Diamond syndrome SBDS SBDS ... are compiled from the following standard references: gene from HGNC ; chromosome locus from OMIM ; protein ...
  2. Nonsyndromic aplasia cutis congenita: MedlinePlus Genetics 
    https://medlineplus.gov/.../nonsyndromic-aplasia-cutis-congenita
    ... one of many symptoms in other conditions, including Johanson-Blizzard syndrome and Adams-Oliver syndrome . These instances are described ...
  3. Resources for Genetics Professionals — Genetic Disorders Associated with Founder Variants Common in the Costa Rican ... 
    https://www.ncbi.nlm.nih.gov/books/NBK581653
    ... 2001] c.1331G>T p.Arg444Leu ~33% UBR1 Johanson-Blizzard syndrome (OMIM 243800 ) AR c.1537C>T p.Glu513Ter ~ ...
  4. Pancreatitis Overview - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK190101
    ... Hepatosplenomegaly Hyperlipoproteinemia type 1D (OMIM 615947 ) GPIHBP1 AR Johanson-Blizzard syndrome (OMIM 243800 ) UBR1 AR Congenital exocrine pancreatic inflammation & ...