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
Titel:
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
Auteur:
Herlin, Laura Krogh Herlin, Morten Krogh Blechingberg, Jenny Rønholt, Kirsten Graversen, Lise Schmidt, Sigrun A.J. Jørgensen, Mette Warming Hellfritzsch, Michel Bach Hald, Jannie Dahl Beck-Nielsen, Signe Sparre Gjørup, Hans Andersen, Brian Nauheimer Gregersen, Pernille Axél Sommerlund, Mette