{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Ryu YH"],"funding":["Korean Government National Research Foundation of Korea"],"pagination":["e1412"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC7549548"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["8(10)"],"pubmed_abstract":["<h4>Background</h4>Lacrimo-auriculo-dento-digital (LADD) syndrome is a rare autosomal dominant disorder caused by mutations in one of the three genes: fibroblast growth factor receptor 2 (FGFR2), FGFR3, or FGF10. Affected patients have hypoplasia/aplasia of lacrimal ducts/glands, hypoplasia/aplasia of salivary glands, dental anomalies, ear anomalies, hearing loss, and digital anomalies.<h4>Case presentation</h4>Proband was an 11-year-old male with xerostomia, xerophthalmia, and a referring diagnosis of Sjogren syndrome. He presented with microdontia, hypodontia, low-set/cupped ear auricles, and hearing loss in the left ear.<h4>Methods</h4>Whole exome sequencing (WES) was performed on proband. Variations and segregation within the family were verified using Sanger sequencing.<h4>Results</h4"],"journal":["Molecular genetics & genomic medicine"],"pubmed_title":["Lacrimo-auriculo-dento-digital syndrome: A novel mutation in a Korean family and review of literature."],"pmcid":["PMC7549548"],"funding_grant_id":["NRF-2018R1A5A2024418"],"pubmed_authors":["Lee S","Kim JW","Ryu YH","Kyun Chae J"],"additional_accession":[]},"is_claimable":false,"name":"Lacrimo-auriculo-dento-digital syndrome: A novel mutation in a Korean family and review of literature.","description":"<h4>Background</h4>Lacrimo-auriculo-dento-digital (LADD) syndrome is a rare autosomal dominant disorder caused by mutations in one of the three genes: fibroblast growth factor receptor 2 (FGFR2), FGFR3, or FGF10. Affected patients have hypoplasia/aplasia of lacrimal ducts/glands, hypoplasia/aplasia of salivary glands, dental anomalies, ear anomalies, hearing loss, and digital anomalies.<h4>Case presentation</h4>Proband was an 11-year-old male with xerostomia, xerophthalmia, and a referring diagnosis of Sjogren syndrome. He presented with microdontia, hypodontia, low-set/cupped ear auricles, and hearing loss in the left ear.<h4>Methods</h4>Whole exome sequencing (WES) was performed on proband. Variations and segregation within the family were verified using Sanger sequencing.<h4>Results</h4","dates":{"release":"2020-01-01T00:00:00Z","publication":"2020 Oct","modification":"2025-04-03T22:26:37.788Z","creation":"2020-10-29T10:30:48Z"},"accession":"S-EPMC7549548","cross_references":{"pubmed":["32715658"],"doi":["10.1002/mgg3.1412"]}}