Canine models of human amelogenesis imperfecta: identification of novel recessive ENAM and ACP4 variants
Sign Up to like & getrecommendations! Published in 2019 at "Human Genetics"
DOI: 10.1007/s00439-019-01997-8
Abstract: Amelogenesis imperfecta (AI) refers to a genetically and clinically heterogeneous group of inherited disorders affecting the structure, composition, and quantity of tooth enamel. Both non-syndromic and syndromic forms of AI have been described and several… read more here.
Keywords: canine models; amelogenesis imperfecta; enam; novel recessive ... See more keywords
Identification and characterization of a novel recessive KCNQ1 mutation associated with Romano-Ward Long-QT syndrome in two Iranian families.
Sign Up to like & getrecommendations! Published in 2017 at "Journal of electrocardiology"
DOI: 10.1016/j.jelectrocard.2017.07.012
Abstract: BACKGROUND One of the foremost causes of sudden cardiac death in the young is an inherent cardiac arrhythmia known as Long-QT syndrome (LQTS). Whereas heterozygous mutations typically lead to the Romano-Ward type of LQTS, We… read more here.
Keywords: long syndrome; romano ward; recessive kcnq1; novel recessive ... See more keywords