Novel Compound Heterozygous Variants in MKS1 Leading to Joubert Syndrome

Joubert syndrome (JBTS) and Meckel–Gruber syndrome (MKS) are rare recessive disorders caused by defects of cilia, and they share overlapping clinical features and allelic loci. Mutations of MKS1 contribute approximately 7% to all MKS cases and are found in some JBTS patients. Here, we describe a JBT...

Descrición completa

Gardado en:
Detalles Bibliográficos
Publicado en:Front Genet
Main Authors: Luo, Minna, He, Ruida, Lin, Zaisheng, Shen, Yue, Zhang, Guangyu, Cao, Zongfu, Lu, Chao, Meng, Dan, Zhang, Jing, Ma, Xu, Cao, Muqing
Formato: Artigo
Idioma:Inglês
Publicado: Frontiers Media S.A. 2020
Assuntos:
Genetics
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC7592398/
https://ncbi.nlm.nih.gov/pubmed/33193692
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fgene.2020.576235
Tags: Engadir etiqueta
Sen Etiquetas, Sexa o primeiro en etiquetar este rexistro!

Títulos similares