Achalasia - Wiley Online Library

A rare cause of infantile achalasia: GMPPA‐congenital disorder of glycosylation with two novel compound heterozygous variants

Although AAA syndrome is commonly thought of, a GMPPA-u2010congenital disorder of glycosylation should also be included in the differential diagnosis. We report a 9u2010month-old female born to nonconsanguineous parents with achalasia and alacrima with two new compound heterozygous variants of the GMPPA gene associated with GMPPA u2010CDG.

Source link: https://onlinelibrary.wiley.com/doi/10.1002/ajmg.a.62859

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