Data Sheet 1_Case Report: A case report and literature review of shwachman-diamond syndrome concurrent with klinefelter syndrome.pdf

Data Sheet 1_Case Report: A case report and literature review of shwachman-diamond syndrome concurrent with klinefelter syndrome.pdf

<p>Shwachman-Diamond syndrome (SDS) is a rare genetic disorder characterized by pancreatic insufficiency, metaphyseal chondrodysplasia, and bone marrow failure. These clinical features collectively contribute to the multisystemic nature of SDS, affecting multiple organ systems. In contrast, Kl...

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Bibliografische gegevens
Hoofdauteur: Chenyang Chang (13136688) (author)
Andere auteurs: Hao Chen (5190) (author), Hao Zhang (15339) (author), Jingshan Chen (248472) (author), Qinxin Wan (22687355) (author), Huifang Zhu (2370628) (author), Kaiyuan Luo (1713460) (author), Xingyu Rao (13971680) (author)
Gepubliceerd in: 2025
Onderwerpen:
Foetal Development and Medicine
shwachman-Diamond syndrome
SBDS gene
Klinefelter syndrome
case report
mosaic pattern
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