Associated Papers
Achalasia and mental retardation in a child with uniparental disomy of GMPPA treated with POEM.
Qiu X et al.
Gastroenterology Report, 2025
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
Evidence of GMPPA founder mutation in indigenous Guatemalan population associated with alacrima, achalasia, and mental retardation syndrome.
Diaz J et al.
American Journal of Medical Genetics. Part A, 2020
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