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
Published in: Eur J Pediatr
Publication type: article
Subject areas: Medicine
SJR best quartile: Q1