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Literature DB >> 33631843

Keratoconus in a patient with B3GALT6-related disorder.

Maria Descartes¹, Yulia V Melenevsky², Natasha Rudy¹, Kirstin Smith¹, Kaitlin Callaway¹, Jack S Parker³.

Abstract

Entities: Chemical

Mesh：

Substances：

Year: 2021 PMID： 33631843 DOI： 10.1111/cge.13940

Source DB: PubMed Journal: Clin Genet ISSN： 0009-9163 Impact factor: 4.438

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1 in total

1. Mutant B3GALT6 in a Multiplex Family: A Dominant Variant Co-Segregated With Moderate Malformations.

Authors: Fang Shen; Yongjia Yang; Yu Zheng; Ming Tu; Liu Zhao; Zhenqing Luo; Yuyan Fu; Yimin Zhu
Journal: Front Genet Date: 2022-06-06 Impact factor: 4.772

1 in total