Publication
Clinical presentation and genetics of tricho-rhino-phalangeal syndrome (TRPS) type 1: A single-center case series of 15 patients and seven novel TRPS1 variants
Laura Krogh Herlin, Morten Krogh Herlin, Jenny Blechingberg, Kirsten Rønholt, Lise Graversen, Sigrun A.J. Schmidt, Mette Warming Jørgensen, Michel Bach Hellfritzsch, Jannie Dahl Hald, Signe Sparre Beck-Nielsen, Hans Gjørup, Brian Nauheimer Andersen, Pernille Axél Gregersen, Mette Sommerlund
European Journal of Medical Genetics, June 2024, Elsevier
DOI: 10.1016/j.ejmg.2024.104937