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46 results
  1. Aspartylglucosaminuria - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK599378
    ... TS, Kurian MA, Elsea SH. GeneReviews(®). 1993 Review Shwachman-Diamond Syndrome. [GeneReviews(®). 1993] Review Shwachman-Diamond Syndrome. Nelson A, Myers K. GeneReviews(®). 1993 Review SLC6A3- ...
  2. Prolidase Deficiency - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK299584
    ... TS, Kurian MA, Elsea SH. GeneReviews(®). 1993 Review Shwachman-Diamond Syndrome. [GeneReviews(®). 1993] Review Shwachman-Diamond Syndrome. Nelson A, Myers K. GeneReviews(®). 1993 Review Beta- ...
  3. Hepatic Veno-Occlusive Disease with Immunodeficiency - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1271
    ... S, Pendyal S, Kishnani PS. GeneReviews(®). 1993 Review Shwachman-Diamond Syndrome. [GeneReviews(®). 1993] Review Shwachman-Diamond Syndrome. Nelson A, ...
  4. Schimke Immunoosseous Dysplasia - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1376
    ... Deficiency. Hershfield M, Tarrant T. GeneReviews(®). 1993 Review Shwachman-Diamond Syndrome. [GeneReviews(®). 1993] Review Shwachman-Diamond Syndrome. Nelson A, ...
  5. Fanconi Anemia - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1401
    ... Diamond-Blackfan Anemia. Sieff C. GeneReviews(®). 1993 Review Shwachman-Diamond Syndrome. [GeneReviews(®). 1993] Review Shwachman-Diamond Syndrome. Nelson A, ...
  6. CLCN7-Related Osteopetrosis - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1127
    ... 1993] Review Hypophosphatasia. Nunes ME. GeneReviews(®). 1993 Review Shwachman-Diamond Syndrome. [GeneReviews(®). 1993] Review Shwachman-Diamond Syndrome. Nelson A, ...
  7. SLC26A2-Related Multiple Epiphyseal Dysplasia - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1306
    ... 1993] Review Calpainopathy. Angelini C. GeneReviews(®). 1993 Review Shwachman-Diamond Syndrome. [GeneReviews(®). 1993] Review Shwachman-Diamond Syndrome. Nelson A, ...
  8. Dyskeratosis Congenita and Related Telomere Biology Disorders - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK22301
    ... TBD may be BMF. DNAJC21 EFL1 SBDS SRP54 Shwachman-Diamond syndrome (SDS) AR AD 2 Exocrine pancreatic dysfunction w/ ... an X-linked manner ( FANCB -related FA). 2. Shwachman-Diamond syndrome (SDS) caused by pathogenic variants in DNAJC21 , EFL1 , ...
  9. 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 , ...
  10. 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 ...
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