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

Abstract 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 dysmo...

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Autors principals:	Martina Farolfi, Anna Cechova, Nina Ondruskova, Jana Zidkova, Bohdan Kousal, Hana Hansikova, Tomas Honzik, Petra Liskova
Format:	Artigo
Idioma:	Inglês
Publicat:	BMC 2021-06-01
Col·lecció:	BMC Ophthalmology
Matèries:	N-linked glycosylation Congenital disorder of glycosylation ALG3-CDG Optic nerve hypoplasia Arthrogryposis Transferrin isoelectric focusing
Accés en línia:	https://doi.org/10.1186/s12886-021-02013-2
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