Biallelic variants in the ciliary gene TMEM67 cause RHYNS syndrome
Sign Up to like & getrecommendations! Published in 2018 at "European Journal of Human Genetics"
DOI: 10.1038/s41431-018-0183-6
Abstract: A rare syndrome was first described in 1997 in a 17-year-old male patient presenting with Retinitis pigmentosa, HYpopituitarism, Nephronophthisis and Skeletal dysplasia (RHYNS). In the single reported familial case, two brothers were affected, arguing for… read more here.
Keywords: variants ciliary; ciliary gene; gene tmem67; tmem67 ... See more keywords
Loss-of-function variants in ciliary genes confer high risk for tetralogy of Fallot
Sign Up to like & getrecommendations! Published in 2025 at "Science Advances"
DOI: 10.1126/sciadv.adt0836
Abstract: Tetralogy of Fallot (TOF), the most common severe cyanotic congenital heart disease, has unclear genetic causes. Through next-generation sequencing in 131 patients with nonsyndromic TOF, we identified an increased burden of rare deleterious variants in… read more here.
Keywords: variants ciliary; function; ciliary genes; tetralogy fallot ... See more keywords