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Book

Shwachman-Diamond Syndrome

Samid M. Farooqui  1 , Rebecca Ward  2 , Muhammad Aziz  3
In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2025 Jan.
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Book

Shwachman-Diamond Syndrome

Samid M. Farooqui et al.
Free Books & Documents

Excerpt

Schwachman-Diamond syndrome (SDS) is an autosomal recessive disorder that is the second most common genetic cause of exocrine pancreatic insufficiency after cystic fibrosis. It presents with the common triad of exocrine pancreatic dysfunction, skeletal abnormalities, and bone marrow dysfunction. However, cardiac abnormalities, immune dysfunction, and hematologic disorders are also reported. A mutation in the Shwachman-Bodian-Diamond syndrome (SBDS) gene on chromosome 7 is found in 90% of the cases.

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Conflict of interest statement

Disclosure: Samid Farooqui declares no relevant financial relationships with ineligible companies.

Disclosure: Rebecca Ward declares no relevant financial relationships with ineligible companies.

Disclosure: Muhammad Aziz declares no relevant financial relationships with ineligible companies.

References

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