QR-koodi

Incidental finding of a DMD exons 48–55 deletion during prenatal diagnosis

BackgroundDMD genetic variants cause a spectrum of phenotypes, from severe progressive proximal muscle weakness and degeneration leading to wheelchair dependence and death from cardiac and/or respiratory failure to very mild muscular phenotypes; very rarely, cases are completely asymptomatic. Few ca...

Täydet tiedot

Tallennettuna:
Päätekijät: Min Zhang, Zhaodong Lin, Meihuan Chen, Danhua Guo, Qiaomei Yang, Qianqian He, Bin Mao, Bin Liang, Lingji Chen, Meiying Cai, Hailong Huang, Liangpu Xu
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: Frontiers Media S.A. 2025-04-01
Sarja:Frontiers in Pediatrics
Aiheet:
DMD
asymptomatic
SNP-array
MLPA
LRS
Linkit:https://www.frontiersin.org/articles/10.3389/fped.2025.1541468/full
Tagit: Lisää tagi
Ei tageja, Lisää ensimmäinen tagi!

Samankaltaisia teoksia