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[Clinical and genetic analysis for two children with congenital disturbance of glycosylation with PMM2 gene mutations].

Zhonghua er ke za zhi = Chinese journal of pediatrics - 1 Dec 2015

Ren Changhong, Fang Fang, Huang Yu, Cheng Hua, Dai Lifang

Abstract excerpt

OBJECTIVE: To analyze the clinical and PMM2 gene mutation features of congenital disturbance of glycosylation caused by PMM2 gene mutation (PMM2-CDG, previously known as CDG 1a). METHOD: The clinical data of two Chinese patients who were clinically diagnosed as PMM2-CDG at neurology department of Beijing Children's Hospital in 2012 were retrospectively collected. The gene mutations were identified by Sanger...

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Identifiers

PMID: 26887550

Genes

PMM2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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