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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Dettagli Bibliografici
Autore principale: Chenyang Chang (13136688) (author)
Altri autori: 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)
Pubblicazione: 2025
Soggetti:
Foetal Development and Medicine
shwachman-Diamond syndrome
SBDS gene
Klinefelter syndrome
case report
mosaic pattern
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