Title: A note of caution on the diagnosis of Martin-Probst syndrome by the detection of the p.D59G mutation in the RAB40AL gene
Authors: Monika Ołdak, Ewelina Ruszkowska, Agnieszka Pollak, Agnieszka Sobczyk-Kopcioł, Cezary Kowalewski, Aleksandra Piwońska, Wojciech Drygas, Rafał Płoski
Journal: Eur J Pediatr
Publication type: article
DOI: 10.1007/s00431-014-2452-x