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Chromosome 11q13 deletion syndrome

Yu-Seon Kim, Gun-Ha Kim, Jung Hye Byeon, So-Hee Eun, Baik-Lin Eun

Clin Exp Pediatr. 2016;59(Suppl 1):S10-S13. Published online November 30, 2016

Crossref 11

Chromosome 11q13 deletion syndrome has been previously reported as either otodental syndrome or oculo-oto-dental syndrome. The otodental syndrome is characterized by dental abnormalities and high-frequency sensorineural hearing loss, and by ocular coloboma in some cases. The underlying genetic defect causing otodental syndrome is a hemizygous microdeletion involving the FGF3 gene on chromosome 11q13.3. Recently, a new form of severe deafness,...

DOI: https://doi.org/10.3345/kjp.2016.59.11.S10

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