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72 results
  1. Spondylometaphyseal Dysplasia, Corner Fracture Type - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK555103
    ... narrow sacrosciatic notch, short femoral neck SBDS 1 Shwachman-Diamond syndrome AR Short stature Small head circumference, failure to ... DNAJC21 , or SRP54 may also be associated with Shwachman-Diamond syndrome (SDS) in rare cases. Note: SDS caused by ...
  2. Schmid Metaphyseal Chondrodysplasia - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK547823
    ... SMCD Distinguishing from SMCD DNAJC21 EFL1 SBDS SRP54 Shwachman-Diamond syndrome AD AR 1 Short stature Metaphyseal widening & irregularities ... Schmid metaphyseal chondrodysplasia; MOI = mode of inheritance 1. Shwachman-Diamond syndrome (SDS) caused by pathogenic variants in DNAJC21 , EFL1 , ...
  3. CLPB Deficiency - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK396257
    ... anemia; neutropenia occurs later DNAJC21 EFL1 SBDS SRP54 Shwachman-Diamond syndrome AR AD 5 Intestinal malabsorption due to exocrine ... al [2010] 4. Sarig et al [2013] 5. Shwachman-Diamond syndrome (SDS) caused by pathogenic variants in DNAJC21 , EFL1 , ...
  4. GATA1-Related Cytopenia - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1364
    ... present; ↑ risk of malignancy EFL1 DNAJC21 SBDS SRP54 Shwachman-Diamond syndrome AR AD 5 Normocytic anemia & neutropenia are most ... an X-linked manner ( FANCB -related FA). 5. Shwachman-Diamond syndrome (SDS) caused by pathogenic variants in DNAJC21 , EFL1 , ...
  5. 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 . ...
  6. Resources for Genetics Professionals — Genes with Highly Homologous Gene Family Members or a Pseudogene(s) - ... 
    https://www.ncbi.nlm.nih.gov/books/NBK535152
    ... SALL1P1 Townes-Brocks syndrome 75% SBDS 15 SBDSP Shwachman-Diamond syndrome 100% SDHA ≥ 4 pseudogenes Hereditary paraganglioma-pheochromocytoma syndromes ...
  7. Pancreatic Disorders | MedlinePlus 
    https://medlineplus.gov/pancreaticdiseases.html
    ... of Diabetes and Digestive and Kidney Diseases) Genetics Shwachman-Diamond syndrome: MedlinePlus Genetics (National Library of Medicine) Videos and ...
  8. GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1116
    ... January 13, 2006; Last Update: April 9, 2020. Shwachman-Diamond Syndrome Adam Nelson and Kasiani Myers. Initial Posting: July ...
  9. Bone Marrow Disease | Bone Marrow | MedlinePlus 
    https://medlineplus.gov/bonemarrowdiseases.html
    ... Primary myelofibrosis: MedlinePlus Genetics (National Library of Medicine) Shwachman-Diamond syndrome: MedlinePlus Genetics (National Library of Medicine) Clinical Trials ...
  10. Cystic Fibrosis - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1250
    ... infantile hyponatremic dehydration & hyperkalemia DNAJC21 EFL1 SBDS SRP54 Shwachman-Diamond syndrome (SDS) AR AD 25 Exocrine pancreatic dysfunction w/ ...
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