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Article

Deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures (DOORS) syndrome: a new case report from Indonesia and review of the literature.

European journal of dermatology : EJD - 1 Aug 2020

Danarti Retno, Rahmayani Shinta, Wirohadidjojo Yohanes Widodo, Chen WenChieh

Abstract excerpt

BACKGROUND: DOORS syndrome (deafness, onychodystrophy, osteodystrophy, mental retardation and seizures; MIM 220500) is a rare multisystem genetic disorder, mainly characterized by sensorineural deafness, shortened terminal phalanges with small nails of hands and feet, intellectual deficit, and seizures. The disease is caused by homozygous or compound heterozygous mutation in the TBC1 domain family member 24...

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Identifiers

PMID: 32969800
DOI: 10.1684/ejd.2020.3850

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