A PMM2-CDG caused by an A108V mutation associated with a heterozygous 70 kilobases deletion case report

A PMM2-CDG caused by an A108V mutation associated with a heterozygous 70 kilobases deletion case report

Abstract Background Congenital Disorders of Glycosylation (CDG) are a large group of inborn errors of metabolism with more than 140 different CDG types reported to date (1). The first characterized, PMM2-CDG, with an autosomal recessive transmission, is also the most frequent. The PMM2 gene encodes...

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Bibliographic Details
Main Authors: E. Lebredonchel, A. Riquet, D. Neut, F. Broly, G. Matthijs, A. Klein, F. Foulquier
Format: Article
Language:English
Published: BMC 2022-10-01
Series:Italian Journal of Pediatrics
Subjects:
CDG
PMM2
Deletion mutation
PMM2-CDG
Whole genome sequencing
Online Access:https://doi.org/10.1186/s13052-022-01355-x

Internet

https://doi.org/10.1186/s13052-022-01355-x

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