Intra-familial phenotypic heterogeneity and telomere abnormality in von Hippel-Lindau disease
Jiangyi Wang, Xiang Peng, Cen Chen, Xianghui Ning, Shuanghe Peng, Teng Li, Shengjie Liu, Baoan Hong, Jingcheng Zhou, Kaifang Ma, Lin Cai, Kan Gong
This study investigates phenotypic heterogeneity and telomere abnormalities in VHL families, finding earlier onset in children and telomere shortening linked to genetic anticipation.
Frontiers in Genetics · Apr 24, 2019Peer-reviewedGenetics