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46 results
  1. G6PC3 Deficiency - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK285321
    ... interacting protein (P14 deficiency) (OMIM 610798 ) Pearson syndrome Shwachman-Diamond syndrome WHIM syndrome (OMIM 193670 ) Wiskott-Aldrich syndrome Management ...
  2. Stool Elastase: MedlinePlus Medical Test 
    https://medlineplus.gov/lab-tests/stool-elastase
    ... the digestive system Certain genetic disorders , such as Shwachman-Diamond syndrome in children Other names: pancreatic elastase, fecal pancreatic ... MD): U.S. Department of Health and Human Services; Shwachman-Diamond syndrome; [updated 2021 Nov 8; cited 2022 Dec 14]; [ ...
  3. Childhood Acute Myeloid Leukemia Treatment (PDQ®) - PDQ Cancer Information Summaries - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK66019
    ... marrow failure syndromes, such as Fanconi anemia and Shwachman-Diamond syndrome. The general characteristics of myeloid leukemias and other ... and WAS variants) and cyclic neutropenia ( ELANE variants). - Shwachman-Diamond ... anemia. - Congenital amegakaryocytic thrombocytopenia ( MPL variants). - ...
  4. ELANE-Related Neutropenia - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1533
    ... See Klein [2011] .) Glycogen storage disease type Ib Shwachman-Diamond syndrome Reticular dysgenesis (OMIM 267500 ) Cartilage-hair hypoplasia Chediak- ... Gene Locus Links Similar articles in PubMed Review Shwachman-Diamond Syndrome. [GeneReviews(®). 1993] Review Shwachman-Diamond Syndrome. Nelson A, ...
  5. Cartilage-Hair Hypoplasia – Anauxetic Dysplasia Spectrum Disorders - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK84550
    ... ichthyosiform skin changes & septicemia. DNAJC21 EFL1 SBDS SRP54 Shwachman-Diamond syndrome (SDS) AR AD Short stature & radiographic metaphyseal abnormalities ...
  6. Rotor Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK114805
    ... 7):648-652. Epub 2023 Mar 23. Review Shwachman-Diamond Syndrome. [GeneReviews(®). 1993] Review Shwachman-Diamond Syndrome. Nelson A, Myers K. GeneReviews(®). 1993 Review Loeys- ...
  7. Pancreatitis Overview - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK190101
    ... PCCA PCCB AR Progressive encephalopathy Metabolic crises Cardiomyopathy Shwachman-Diamond syndrome DNAJC21 EFL1 SBDS SRP54 AR (AD) Exocrine pancreatic ...
  8. Peters Plus Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1464
    ... Syndrome. Loeys BL, Dietz HC. GeneReviews(®). 1993 Review Shwachman-Diamond Syndrome. [GeneReviews(®). 1993] Review Shwachman-Diamond Syndrome. Nelson A, ...
  9. Urofacial Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK154138
    ... Myopathy. Bhagwat PK, Wangler MF. GeneReviews(®). 1993 Review Shwachman-Diamond Syndrome. [GeneReviews(®). 1993] Review Shwachman-Diamond Syndrome. Nelson A, ...
  10. Thrombocytopenia Absent Radius Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK23758
    ... Anemia. Mehta PA, Ebens C. GeneReviews(®). 1993 Review Shwachman-Diamond Syndrome. [GeneReviews(®). 1993] Review Shwachman-Diamond Syndrome. Nelson A, ...
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