- ... 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 ] ...
- ... chondrodysplasia, Shwachman type</synonym><synonym >SDS</synonym><synonym >Shwachman syndrome</synonym><synonym >Shwachman-Bodian syndrome</synonym><synonym >Shwachman- ...
- ... 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</ ...
- ... to short-term side effect shoulder blade shunt Shwachman syndrome Shwachman-Diamond syndrome sialic acid sialyl Tn-KLH sibling sickle cell ...
- ... 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 ...
- ... 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 ...
- ... 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 : ...
- ... interacting protein (P14 deficiency) (OMIM 610798 ) Pearson syndrome Shwachman-Diamond syndrome WHIM syndrome (OMIM 193670 ) Wiskott-Aldrich syndrome Management ...
- ... marrow failure syndromes, such as Fanconi anemia and Shwachman-Diamond syndrome. The general characteristics of myeloid leukemias and other ... and WAS variants) and cyclic neutropenia ( ELANE variants). - Shwachman-Diamond ... anemia. - Congenital amegakaryocytic thrombocytopenia ( MPL variants). - ...
- ... See Klein [2011] .) Glycogen storage disease type Ib Shwachman-Diamond syndrome Reticular dysgenesis (OMIM 267500 ) Cartilage-hair hypoplasia Chediak- ... Gene Locus Links Similar articles in PubMed Review Shwachman-Diamond Syndrome. [GeneReviews(®). 1993] Review Shwachman-Diamond Syndrome. Nelson A, ...
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