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...
Gardado en:
| Principais autores: | , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado: |
Elsevier
2024-06-01
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| Series: | Molecular Genetics and Metabolism Reports |
| Assuntos: | |
| Acceso en liña: | http://www.sciencedirect.com/science/article/pii/S2214426924000259 |
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