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Lacrimo‐auriculo‐dento‐digital syndrome: A novel mutation in a Korean family and review of literature

26 Jul 2020

Abstract excerpt

BACKGROUND: 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. CASE PRESENTATION: Proband was an...

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PMID: 32715658
DOI: 10.1002/mgg3.1412

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