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

Achalasia is rare in the pediatric population and should prompt clinicians to consider genetic disorders associated with this condition. While AAA syndrome (also known as Allgrove or Triple A syndrome) is commonly considered, GMPPA‐congenital disorder of glycosylation (CDG) should also be in the dif...

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Detalles Bibliográficos
Autores principales: Geiculescu, Irina, Dranove, Jason, Cosper, Graham, Edmondson, Andrew C., Morava‐Kozicz, Eva, Carter, Lauren B.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2022
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9283290/
https://www.ncbi.nlm.nih.gov/pubmed/35665995
http://dx.doi.org/10.1002/ajmg.a.62859

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