Associated Papers
A rare cause of infantile achalasia: GMPPA-congenital disorder of glycosylation with two novel compound heterozygous variants.
Geiculescu I et al.
American Journal of Medical Genetics. Part A, 2022
35665995 (PubMed )
Supplement: AJMG-188-2438-s002.xlsx › Sheet1
A Novel GMPPA Mutation in Two Adult Sisters with Achalasia, Alacrima, Short Stature, Dysmorphism, and Intellectual Disability.
Benítez EO et al.
Molecular Syndromology, 2018
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