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- W4286517191 abstract "Congenital absence or hypoplasia of the major salivary glands is rarely observed and easily overlooked in the clinic. Lacrimo-auriculo-dento-digital syndrome (LADD) is a congenital anomaly disorder that is characterized by aplasia, atresia, or hypoplasia of the lacrimal and salivary glands and caused by FGFR2, FGFR3, or FGF10 gene mutation. Autoimmune polyendocrine syndrome type 1 (APS-I) caused by an AIRE gene mutation is a rare inherited autoimmune disease characterized by chronic mucocutaneous candidiasis, Addison disease, and hypoparathyroidism. However, simultaneous mutations in pathogenic genes of the two syndromes (LADD and APS-I) in one patient is rarely observed. Herein, we have presented a patient with main complaints of xerostomia and xerophthalmia that was diagnosed with LADD syndrome with AIRE mutation." @default.
- W4286517191 created "2022-07-22" @default.
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- W4286517191 date "2022-11-01" @default.
- W4286517191 modified "2023-10-17" @default.
- W4286517191 title "Lacrimo-auriculo-dento-digital syndrome with AIRE mutation: A case report" @default.
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- W4286517191 doi "https://doi.org/10.1016/j.jormas.2022.07.014" @default.
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