Case Report: A case report and literature review of shwachman-diamond syndrome concurrent with klinefelter syndrome

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, Klinefelter...

Descrición completa

Detalles Bibliográficos

Principais autores:	Chenyang Chang, Hao Chen, Hao Zhang, Jingshan Chen, Qinxin Wan, Huifang Zhu, Kaiyuan Luo, Xingyu Rao
Formato:	Artigo
Idioma:	Inglês
Publicado:	Frontiers Media S.A. 2025-11-01
Series:	Frontiers in Pediatrics
Assuntos:	shwachman-Diamond syndrome SBDS gene Klinefelter syndrome case report mosaic pattern
Acceso en liña:	https://www.frontiersin.org/articles/10.3389/fped.2025.1671169/full
Tags:	Engadir etiqueta Sen Etiquetas, Sexa o primeiro en etiquetar este rexistro!