Two novel compound heterozygous mutations in NGLY1as a cause of congenital disorder of deglycosylation: a case presentation

BACKGROUND: NGLY1-related congenital disorder of deglycosylation (NGLY1-CDDG) is a multisystemic neurodevelopmental disorder in which affected individuals show developmental delay, epilepsy, intellectual disability, abnormal liver function, and poor growth. This study presents a 10-month-old female...

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Detalles Bibliográficos
Autores principales: Ge, Haixia, Wu, Qingbin, Lu, Huigang, Huang, Yong, Zhou, Tingting, Tan, Danlin, ZhongqinJin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7310492/
https://www.ncbi.nlm.nih.gov/pubmed/32576142
http://dx.doi.org/10.1186/s12881-020-01067-1

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