Article
Severe achondroplasia due to two de novo variants in the transmembrane domain of FGFR3 on the same allele: A case report.
Molecular genetics & genomic medicine - 1 Mar 2020
Nagata Tadashi, Matsushita Masaki, Mishima Kenichi, Kamiya Yasunari, Kato Kohji, Toyama Miho, Ogi Tomoo, Ishiguro Naoki, Kitoh Hiroshi
Abstract excerpt
BACKGROUND: Achondroplasia (ACH), the most common form of short-limbed skeletal dysplasia, is caused by gain-of-function mutations in the fibroblast growth factor receptor 3 (FGFR3) gene. More than 97% of patients result from a heterozygous p.G380R mutation in the FGFR3 gene. We present here a child who had two de novo variants in the FGFR3 on the same allele, a common p.G380R mutation and a novel p.S378N...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.