Novel mutations of SOX10 gene in Chinese patients with type II Waardenburg syndrome.
Sign Up to like & getrecommendations! Published in 2020 at "International journal of pediatric otorhinolaryngology"
DOI: 10.1016/j.ijporl.2020.110172
Abstract: Waardenburg Syndrome (WS) is a condition characterized by sensorineural deafness and pigment disturbances of the skin, hair and iris. By using the latest genomics technology, the WS-related gene mutations and corresponding mechanisms have been widely… read more here.
Keywords: sox10 gene; novel mutations; waardenburg syndrome; gene chinese ... See more keywords
The Mutation Analysis of the AMT Gene in a Chinese Family With Nonketotic Hyperglycinemia
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Genetics"
DOI: 10.3389/fgene.2022.854712
Abstract: Background: Nonketotic hyperglycinemia is a metabolic disease with autosomal recessive inheritance due to the glycine cleavage system (GCS) defect leading to the accumulation of glycine that causes severe and fatal neurological symptoms in the neonatal… read more here.
Keywords: amt gene; family; nonketotic hyperglycinemia; gene chinese ... See more keywords