Alacrimia

A novel TRAPPC11 mutation in two Turkish families associated with cerebral atrophy, global retardation, scoliosis, achalasia and alacrima
Katrin Koehler, Miroslav P. Milev, Keshika Prematilake, Felix Reschke, Susann Kutzner, Ramona Jühlen, Dana Landgraf, Eda Utine, Filiz Hazan, Gulden Diniz, Markus Schuelke, Angela Huebner, Michael Sacher

Journal of Medical Genetics Mar 2017, 54 (3) 176-185; DOI: 10.1136/jmedgenet-2016-104108

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