Journal
OPHTHALMIC GENETICS
Volume 39, Issue 1, Pages 125-128Publisher
TAYLOR & FRANCIS INC
DOI: 10.1080/13816810.2017.1381976
Keywords
ALSG; dry eye; FGF10; lacrimal gland agenesis
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Aplasia/agenesis of lacrimal and salivary glands is a rare congenital defect that has been associated with disturbances in fibroblast growth factor 10 (FGF10). It can present with symptoms of congenital lacrimal obstruction, dry eye, and dry mouth. We report the ophthalmological and genetic study of a 19-year-old woman and her relatives suffering from this syndrome. A new probably pathogenic variant is described in the FGF10 gene.
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