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Case Report: The novel hemizygous mutation in the SSR4 gene caused congenital disorder of glycosylation type iy: A case study and literature review

Background: Recently, the hemizygous variation of SSR4 gene has been reported to be associated with congenital disorder of glycosylation type Iy. To date, only 13 patients have been diagnosed with SSR4-CDG in the worldwide, but it has not been reported in the Chinese population.Methods: Whole-exome...

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Principais autores: Jun Wang, Xingqing Gou, Xiyi Wang, Jing Zhang, Nan Zhao, Xiaohong Wang
Formato: Artigo
Idioma:Inglês
Publicado em: Frontiers Media S.A. 2022-10-01
coleção:Frontiers in Genetics
Assuntos:
SSR4 gene
congenital disorder of glycosylation
type Iy
psychomotor retardation
microcephaly
X-linked SSR4-CDG
Acesso em linha:https://www.frontiersin.org/articles/10.3389/fgene.2022.955732/full
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