Biallelic mutations in RTTN are associated with microcephaly, short stature and a wide range of brain malformations

Autor: Stouffs, Katrien, Moortgat, Stéphanie, Vanderhasselt, Tim, Vandervore, Laura, Dica, Alice, Mathot, Mikaël, Keymolen, Kathelijn, Seneca, Sara, Gheldof, Alexander, De Meirleir, Linda, Jansen, Anna C.
Zdroj: In European Journal of Medical Genetics December 2018 61(12):733-737
Databáze: ScienceDirect