A novel TRAPPC11 mutation in two Turkish families associated with cerebral atrophy, global retardation, scoliosis, achalasia and alacrima.
Journal of medical genetics | 2017-03-01 | PMID 27707803
Koehler Katrin, Milev Miroslav P, Prematilake Keshika and 10 more
Genes: TRAPPC11, LAMP1
