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ABSTRACT 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… Click to show full abstract
ABSTRACT 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.
Keywords:
ophthalmological genetic;
pathogenic variant;
agenesis lacrimal;
genetic study;
lacrimal salivary;
fgf10 gene
Journal Title: Ophthalmic Genetics
Year Published: 2018
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Journal Title: Ophthalmic Genetics
Year Published: 2018
Link to full text (if available)
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recommendations!