Novel mutation of COG5 in a Taiwanese girl with congenital disorders of glycosylation manifesting as developmental delay
We are documenting the case of An 11-year-old girl who has been followed up at our out-patient clinic since birth with clinical presentations including intrauterine growth restriction, recurrent periodic fever in infancy, hypotonia, global developmental delay, liver function impairment with cirrhoti...
Main Authors: | Yu-Chi Wang, Dau-Ming Niu, Li-Zhen Chen, Yun-Ru Chen, Chia-Feng Yang |
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Format: | Article |
Language: | English |
Published: |
Elsevier
2024-06-01
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Series: | Molecular Genetics and Metabolism Reports |
Subjects: | |
Online Access: | http://www.sciencedirect.com/science/article/pii/S2214426924000259 |
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