@article{84cd98a8dd584f28aadf70364ec0fcbd,
title = "1024C>T (R342X) is a recurrent PHF6 mutation also found in the original B{\"o}rjeson-Forssman-Lehmann syndrome family",
author = "Lower, \{Karen M.\} and G{\"o}ran Solders and Bondeson, \{Marie Louise\} and John Nelson and Arne Brun and Joanna Crawford and Gunilla Malm and Mats B{\"o}rjeson and Gillian Turner and Michael Partington and Jozef G{\'e}cz",
year = "2004",
month = oct,
doi = "10.1038/sj.ejhg.5201228",
language = "English",
volume = "12",
pages = "787--789",
journal = "European Journal of Human Genetics",
issn = "1018-4813",
publisher = "Springer Nature",
number = "10",
}