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  1. Shwachman-Diamond Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1756
    ... congenital neutropenia [ Bellanné-Chantelot et al 2018 ]. Differential Diagnosis Features of Shwachman-Diamond syndrome (SDS) (e.g., poor growth and transient neutropenia) ...
  2. Pancreatitis Overview - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK190101
    ... sinusitis, bronchiectasis, bronchitis, pneumonia, constipation, male infertility, pancreatitis symptoms) and Shwachman-Diamond syndrome (e.g., pancreatic insufficiency, short stature, maldigestion, neutropenia, ...
  3. Childhood Acute Myeloid Leukemia/Other Myeloid Malignancies Treatment (PDQ®) - PDQ Cancer Information Summaries - NCBI .... 
    https://www.ncbi.nlm.nih.gov/books/NBK65864
    ... anemia. - Fanconi anemia . - Neurofibromatosis type 1 . - Noonan syndrome . - Shwachman-Diamond syndrome . - Diamond-Blackfan anemia . - Dyskeratosis congenita . - Li-Fraumeni syndrome . Signs and symptoms of childhood acute myeloid leukemia and other myeloid ...
  4. 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 Evaluations Following Initial Diagnosis To establish the extent of disease and needs ...
  5. Schmid Metaphyseal Chondrodysplasia - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK547823
    ... Table 3. Genes of Interest in the Differential Diagnosis of Schmid Metaphyseal ... Short stature Metaphyseal widening & irregularities ...
  6. Monosomy 7 Predisposition Syndromes Overview - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK571103
    ... A. Clinical features and outcomes of patients with Shwachman-Diamond syndrome and ... K, Olson TS. Diagnosis and treatment of pediatric myelodysplastic syndromes: A survey ...
  7. Stool Elastase: MedlinePlus Medical Test 
    https://medlineplus.gov/lab-tests/stool-elastase
    ... the digestive system Certain genetic disorders , such as Shwachman-Diamond ... has belly pain and other digestive symptoms that don't have a known cause. This ...
  8. Shwachman-Diamond syndrome 
    https://medlineplus.gov/.../condition/shwachman-diamond-syndrome
    ... these changes lead to the major signs and symptoms of Shwachman-Diamond syndrome. Researchers suspect that a shortage of functional SBDS ... Siderius L, Liu JM. Draft consensus guidelines for diagnosis and treatment of Shwachman-Diamond syndrome. Ann N Y Acad Sci. 2011 Dec;1242: ...
  9. xmlghr-summaries.xml 
    https://medlineplus.gov/download/ghr-summaries.xml
    ... chondrodysplasia, Shwachman type</synonym><synonym >SDS</synonym><synonym >Shwachman syndrome</synonym><synonym >Shwachman-Bodian syndrome</synonym><synonym >Shwachman- ...
  10. Dyskeratosis Congenita and Related Telomere Biology Disorders - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK22301
    ... congenita Hoyeraal Hreidarsson syndrome Revesz syndrome Coats plus syndrome Diagnosis Dyskeratosis congenita and related telomere biology disorders (DC/ ...
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