Clinical and genetic characterization of Lenz-Majewski syndrome with a PTDSS1 variant: a case report and literature review

IntroductionLenz-Majewski syndrome (LMS) is an ultra-rare congenital disorder with progressive skeletal dysplasia, cutis laxa, and intellectual disability, typically caused by pathogenic variants in the PTDSS1 gene.MethodsOur patient with multiple malformations and developmental delay who was treate...

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出版年:	Frontiers in Pediatrics
主要な著者:	Yahua Zhang, You Wu, Lulu Yan, Yuxin Zhang, Haibo Li, Yan He
フォーマット:	論文
言語:	英語
出版事項:	Frontiers Media S.A. 2025-08-01
主題:	PTDSS1 gene whole exome sequencing Lenz-Majewski syndrome clinical manifestations genetic analysis
オンライン･アクセス:	https://www.frontiersin.org/articles/10.3389/fped.2025.1617541/full