Female Siblings with Pendred's Syndrome.
スポンサーリンク
概要
- 論文の詳細を見る
Female siblings with Pendred's syndrome were admitted to our clinic. The abnormality of the acoustic structure was examined by MRI. Bilateral enlargement of the vestibular aqueduct and a prominently marked endolymphatic sac were found on MRI. These findings seemed likely to represent a Mondini deformity. Acoustic structure in Pendred's syndrome was examined here by MRI for the first time. We examined their HLA-DR locus as a genetic marker using the affected sibpair method preliminary. HLA typing might be a diagnostic criteria of Pendred's syndrome, although the present siblings possessed 2 HLA genes in common.(Internal Medicine 33: 369-372, 1994)
- 社団法人 日本内科学会の論文
著者
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Shibata Akira
The First Department Of Internal Medicine Niigata University School Of Medicine
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Nakagawa Osamu
The First Department Of Internal Medicine Niigata University School Of Medine
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Tani Nagayuki
The First Department Of Internal Medicine Niigata University School Of Medicine
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ITO SEIKI
The First Department of Internal Medicine, Niigata University School of Medicine
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YAMAZAKI Masatoshi
The First Department of Internal Medicine, Niigata University School of Medicine
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HANYU Osamu
The First Department of Internal Medicine, Niigata University School of Medicine
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URUSHIYAMA Masaru
Internal Medicine, Sado General Hospital
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