Autosomal dominant onychodystrophy and congenital sensorineural deafness
| Autor: | Tadashi Matsumoto, Yoshiro Tsuji, Tetsuo Matsuzaka, Akira Tsuru, Tatsuro Kondoh |
|---|---|
| Rok vydání: | 1999 |
| Předmět: |
Adult
Male medicine.medical_specialty Nails Malformed Biology Deafness Onychodystrophy otorhinolaryngologic diseases Genetics medicine Humans Maternal grandfather Genetics (clinical) Genes Dominant Tooth Abnormalities Infant Dermatology Autosomal dominant form Pedigree Congenital sensorineural deafness Statistical genetics Mutation Medical genetics Female Three generations Absent nails |
| Zdroj: | Journal of human genetics. 44(1) |
| ISSN: | 1434-5161 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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