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Identification of an IGSF3 mutation in a family with congenital nasolacrimal duct obstruction.

作者信息

Foster J, Kapoor S, Diaz-Horta O, Singh A, Abad C, Rastogi A, Moharana R, Tekeli O, Walz K, Tekin M

机构信息

Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA.

出版信息

Clin Genet. 2014 Dec;86(6):589-91. doi: 10.1111/cge.12321. Epub 2013 Dec 27.

DOI:10.1111/cge.12321
PMID:24372406
Abstract
摘要

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Preliminary report on screening IGSF3 gene mutation in families with congenital absence of lacrimal puncta and canaliculi.
先天性泪小点和泪小管缺如家族中IGSF3基因突变筛查的初步报告
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IGSF3 mutation identified in patient with severe COPD alters cell function and motility.在患有严重 COPD 的患者中发现 IGSF3 突变，改变了细胞功能和迁移能力。
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