Identification of a novel homozygous loss-of-function mutation in FUCA1 gene causing severe fucosidosis: A case report

Fucosidosis is a rare lysosomal storage disorder characterized by deficiency of α-L-fucosidase with an autosomal recessive mode of inheritance. Here, we describe a 4-year-old Chinese boy with signs and symptoms of fucosidosis but his parents were phenotypically normal. Whole exome sequencing (WES) i...

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Detalles Bibliográficos
Autores principales: Zhang, Xinwen, Zhao, Shaozhi, Liu, Hongwei, Wang, Xiaoyan, Wang, Xiaolei, Du, Nan, Liu, Hui, Duan, Hongfang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: SAGE Publications 2021
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8111281/
https://www.ncbi.nlm.nih.gov/pubmed/33906529
http://dx.doi.org/10.1177/03000605211005975

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