QR kód

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...

Celý popis

Uloženo v:
Hlavní autoři: Yahua Zhang, You Wu, Lulu Yan, Yuxin Zhang, Haibo Li, Yan He
Médium: Artigo
Jazyk:Inglês
Vydáno: Frontiers Media S.A. 2025-08-01
Edice:Frontiers in Pediatrics
Témata:
PTDSS1 gene
whole exome sequencing
Lenz-Majewski syndrome
clinical manifestations
genetic analysis
On-line přístup:https://www.frontiersin.org/articles/10.3389/fped.2025.1617541/full
Tagy: Přidat tag
Žádné tagy, Buďte první, kdo vytvoří štítek k tomuto záznamu!

Podobné jednotky