ALG3-CDG: a patient with novel variants and review of the genetic and ophthalmic findings

BACKGROUND: ALG3-CDG is a rare autosomal recessive disease. It is characterized by deficiency of alpha-1,3-mannosyltransferase caused by pathogenic variants in the ALG3 gene. Patients manifest with severe neurologic, cardiac, musculoskeletal and ophthalmic phenotype in combination with dysmorphic fe...

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Detalles Bibliográficos
Autores principales: Farolfi, Martina, Cechova, Anna, Ondruskova, Nina, Zidkova, Jana, Kousal, Bohdan, Hansikova, Hana, Honzik, Tomas, Liskova, Petra
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8180164/
https://www.ncbi.nlm.nih.gov/pubmed/34090370
http://dx.doi.org/10.1186/s12886-021-02013-2

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8180164/
https://www.ncbi.nlm.nih.gov/pubmed/34090370
http://dx.doi.org/10.1186/s12886-021-02013-2

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