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单词 Shwachman syndrome
释义

Shwachman syndrome

英语百科

Shwachman–Diamond syndrome

(重定向自Shwachman syndrome)
Shwachman–Diamond syndrome is inherited in an autosomal recessive pattern.

Shwachman–Diamond syndrome (SDS) or Shwachman–Bodian–Diamond syndrome is a rare congenital disorder characterized by exocrine pancreatic insufficiency, bone marrow dysfunction, skeletal abnormalities, and short stature. After cystic fibrosis (CF), it is the second most common cause of exocrine pancreatic insufficiency in children.

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更新时间:2025/6/18 12:18:35