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77 results
  1. ... Search term GeneReviews Advanced Search Help < Prev Next > Shwachman-Diamond Syndrome Synonym: Shwachman-Bodian-Diamond Syndrome Adam Nelson , MBBS ... JF. An inherited defect of neutrophil mobility in Shwachman syndrome. J Pediatr. 1979;94:391–4. [ PubMed : 423020 ] ...
  2. ... unknown. Learn more about the gene associated with Shwachman-Diamond syndrome SBDS Additional Information from NCBI Gene: DNAJC21 EFL1 ... lipomatosis of pancreas Metaphyseal chondrodysplasia, Shwachman type SDS Shwachman syndrome Shwachman-Bodian syndrome Shwachman-Bodian-Diamond syndrome Shwachman- ...
  3. ... these processes. Health Conditions Related to Genetic Changes Shwachman-Diamond syndrome More than 80 mutations in the SBDS gene have been identified in people with Shwachman-Diamond syndrome. This condition causes problems related to impaired function ...
  4. ... chondrodysplasia, Shwachman type</synonym><synonym >SDS</synonym><synonym >Shwachman syndrome</synonym><synonym >Shwachman-Bodian syndrome</synonym><synonym >Shwachman- ...
  5. ... Shprintzen-Goldberg syndrome SHS, see Sheldon-Hall syndrome Shwachman syndrome, see Shwachman-Diamond syndrome Shwachman-Bodian syndrome, see Shwachman-Diamond syndrome Shwachman- ...
  6. ... name><other_name >SDS</other_name><other_name >Shwachman syndrome</other_name><other_name >Shwachman-Bodian syndrome</other_name><other_name >Shwachman-Bodian-Diamond syndrome</ ...
  7. ... to short-term side effect shoulder blade shunt Shwachman syndrome Shwachman-Diamond syndrome sialic acid sialyl Tn-KLH sibling sickle cell ...
  8. ... NOP10 , PARN , RTEL1 , TERC , TERT , TINF2 , and WRAP53 . Shwachman-Diamond syndrome, Diamond-Blackfan anemia, and other bone marrow failure ... such as Fanconi anemia, severe congenital neutropenia, and Shwachman-Diamond syndrome, or a germline predisposition syndrome that confers higher ...
  9. ... aside from MDS/AML DNAJC21 ELF1 SBDS SRP54 Shwachman-Diamond syndrome 9 AD AR 1%-5% Childhood to adult ... Short stature is seen in many conditions including Shwachman-Diamond syndrome, Fanconi anemia, and MIRAGE syndrome Microcephaly is seen ...
  10. ... GI tract, & genital tract). DNAJC21 EFL1 SBDS SRP54 Shwachman-Diamond syndrome (SDS) AR AD Exocrine pancreatic dysfunction w/malabsorption, ... bone marrow failure syndromes: Diamond-Blackfan anaemia and Shwachman-Diamond syndrome. Br J Haematol. 1999; 107 :49–54. [ PubMed : ...
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