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  1. 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 , ...
  2. 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 , ...
  3. 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 ...
  4. 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/ ... History 8 August 2024 (aa) Revision: White-Sutton syndrome added to Differential Diagnosis 9 March ... Guidelines / Consensus Statements Barben J, Castellani C, ...
  5. Excluded studies - Cystic Fibrosis - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK535663
    ... in the protocol. Holsclaw, D. D., Rocmans, C., Shwachman, H., Abdominal complaints and appendiceal changes leading to ... 58, 1341–5, e699–704, 2012 Narrative review Shwachman, H., Redmond, A., Khaw, K. T., Studies in ...
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