Cargando...

先天性肌营养不良1C型1例临床特点和FKRP基因突变分析

Congenital muscular dystrophy type 1C (MDC1C) is caused by the homozygous or compound heterozygous mutations of the FKRP gene. This article reported the clinical and mutation features of a child with MDC1C. The boy aged 8 months visited the hospital due to delayed development. As for clinical manife...

Descrición completa

Gardado en:
Detalles Bibliográficos
Publicado en:Zhongguo Dang Dai Er Ke Za Zhi
Formato: Artigo
Idioma:Inglês
Publicado: 中国当代儿科杂志编辑部 2018
Assuntos:
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC7389173/
https://ncbi.nlm.nih.gov/pubmed/30210031
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.7499/j.issn.1008-8830.2018.09.014
Tags: Engadir etiqueta
Sen Etiquetas, Sexa o primeiro en etiquetar este rexistro!