These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Search MEDLINE/PubMed

  • Title: Autosomal dominant onychodystrophy and congenital sensorineural deafness.
    Author: Kondoh T, Tsuru A, Matsumoto T, Matsuzaka T, Tsuji Y.
    Journal: J Hum Genet; 1999; 44(1):60-2. PubMed ID: 9929981.
    Abstract:
    The disease "deafness and onychodystrophy" (DOD) is characterized by congenital hearing impairment and dystrophic or absent nails and teeth. The autosomal dominant form of the disorder has been previously reported only in one family. We describe here another family in which three members in three generations (a girl, her mother, and her maternal grandfather) were affected with DOD. Our finding is consistent with an autosomal dominant mode of inheritance and confirms autosomal dominant DOD (DDOD, MIM *124480) as a recognizable clinical entity.
    [Abstract] [Full Text] [Related] [New Search]