Associated Papers
Triple A (Allgrove) syndrome due to AAAS gene mutation with a rare association of amyotrophy.
Jayant SS et al.
Hormones (athens, Greece), 2021
TRAPPopathies: An emerging set of disorders linked to variations in the genes encoding transport protein particle (TRAPP)-associated proteins.
Sacher M et al.
Traffic (copenhagen, Denmark), 2019
TRAPPC11 and GOSR2 mutations associate with hypoglycosylation of α-dystroglycan and muscular dystrophy.
Larson AA et al.
Skeletal Muscle, 2018
Novel TRAPPC11 Mutations in a Chinese Pedigree of Limb Girdle Muscular Dystrophy.
Wang X et al.
Case Reports in Genetics, 2018
A novel TRAPPC11 mutation in two Turkish families associated with cerebral atrophy, global retardation, scoliosis, achalasia and alacrima.
Koehler K et al.
Journal of Medical Genetics, 2017
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