1024C>T (R342X) is a recurrent RHF6 mutation also found in the original Börjeson-Forssman-Lehmann syndrome family

Lower, K.Solders, G.Bondeson, M.Nelson, J.Brun, A.Crawford, J.Malm, G.Borjeson, M.Turner, G.Partington, M.Gecz, J.2006-06-232006-06-232004European Journal of Human Genetics, 2004; 12(10):787-7891018-48131476-5438http://hdl.handle.net/2440/7221enHumansObesityHypogonadismSyndromeArgininePedigreePoint MutationFemaleMaleX-Linked Intellectual Disability1024C>T (R342X) is a recurrent RHF6 mutation also found in the original Börjeson-Forssman-Lehmann syndrome family1024C>T (R342X) is a recurrent RHF6 mutation also found in the original Borjeson-Forssman-Lehmann syndrome familyJournal article002004183910.1038/sj.ejhg.52012280002239287000012-s2.0-644422951156001Gecz, J. [0000-0002-7884-6861]