Identification of a novel ST3GAL5 variant in a Chinese boy with GM3 synthase deficiency and literature review of variants in the ST3GAL5 gene

Abstract Background GM3 synthase deficiency (GM3SD) is an autosomal recessive disorder resulting from mutations in the ST3GAL5 gene. It is characterized by intellectual disability, microcephaly, psychomotor and developmental delay, hearing and visual impairments, and changes in skin pigmentation. Th...

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Autors principals:	Dan Mu, Yanting Yang, Yao Liu, Ying Shen, Hongqian Liu, Jing Wang
Format:	Artigo
Idioma:	Inglês
Publicat:	BMC 2024-11-01
Col·lecció:	Orphanet Journal of Rare Diseases
Matèries:	Compound heterozygous variations GM3 synthase deficiency Gangliosides ST3GAL5 gene Trio-whole exome sequencing
Accés en línia:	https://doi.org/10.1186/s13023-024-03369-6
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