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Lacrimo-auriculo-dento-digital syndrome: A novel mutation in a Korean family and review of literature.
Ryu YH, Kyun Chae J, Kim JW, Lee S. Ryu YH, et al. Mol Genet Genomic Med. 2020 Oct;8(10):e1412. doi: 10.1002/mgg3.1412. Epub 2020 Jul 26. Mol Genet Genomic Med. 2020. PMID: 32715658 Free PMC article. Review.
CASE PRESENTATION: 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. METHODS: Whole exome sequencin …
CASE PRESENTATION: Proband was an 11-year-old male with xerostomia, xerophthalmia, and a referring diagnosis of Sjogren syndrome. He present …