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Shwachman Diamond syndrome
LE WE PMID CA
Shwachman Diamond syndrome2531Shwachman Diamond Syndrom

5q minus syndrome

Anemia (Diamond Blackfan)

Cartilage hair hypoplasia

Dyskeratosis congenita

Immunodeficiency (Inherited)

Ribosome

RPS14

RPS19

SBDS

Shwachman Diamond syndrome

Treacher Collins syndrome

2008  
1
Some cases of common variable immunodeficiency may be due to a mutation in the SBDS gene of Shwachman-Diamond syndrome.
[18190602] Clin Exp Immunol 151(3): 448-54 (2008)
2006  
2
Shwachman-Diamond syndrome: UK perspective.
[16714727] Arch Dis Child 91(6): 521-4 (2006)
2010  
3
Ribosomopathies: human disorders of ribosome dysfunction.
[20194897] Blood 115(16): 3196-205 (2010)
2009  
4
Shwachman-Diamond syndrome: a review of the clinical presentation, molecular pathogenesis, diagnosis, and treatment.
[19327581] Hematol Oncol Clin North Am 23(2): 233-48 (2009)

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All Medline data shown were primarily retrieved from MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine.


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