WEKO3
-
RootNode
アイテム
The Bardet-Biedl Syndrome : A Report of Two Families
http://hdl.handle.net/10191/33175
http://hdl.handle.net/10191/3317520faaff4-f2a1-4954-96c8-31a48ad1c48b
| 名前 / ファイル | ライセンス | アクション |
|---|---|---|
44(3)_157-161.pdf (721.6 kB)
|
|
| Item type | 紀要論文 / Departmental Bulletin Paper(1) | |||||
|---|---|---|---|---|---|---|
| 公開日 | 2015-08-27 | |||||
| タイトル | ||||||
| タイトル | The Bardet-Biedl Syndrome : A Report of Two Families | |||||
| タイトル | ||||||
| タイトル | The Bardet-Biedl Syndrome : A Report of Two Families | |||||
| 言語 | en | |||||
| 言語 | ||||||
| 言語 | eng | |||||
| キーワード | ||||||
| 主題Scheme | Other | |||||
| 主題 | polydactyly | |||||
| キーワード | ||||||
| 主題Scheme | Other | |||||
| 主題 | retinal dystrophy | |||||
| キーワード | ||||||
| 主題Scheme | Other | |||||
| 主題 | hypogonadism | |||||
| 資源タイプ | ||||||
| 資源 | http://purl.org/coar/resource_type/c_6501 | |||||
| タイプ | departmental bulletin paper | |||||
| 著者 |
Wang, Vinchi
× Wang, Vinchi× Fong, Man-Tat× Chang, Tong-Hwey× Yan, Sui-Hing |
|||||
| 抄録 | ||||||
| 内容記述タイプ | Abstract | |||||
| 内容記述 | We studied four patients from two families manifesting impaired vision, obesity, hypogenitalism, polydactyly, and mental retardation, features the Bardet-Biedl syndrome, which differs from the Laurence-Moon syndrome by the presence of renal disease and polydactyly. The visual problem is attributed to retinal dystrophy, which was present in all four patients. Renal dysfunction with hypokalemia was noted in only one patient. Close consanguinity occurs between the parents of one family, while there are members with mental disorders but no other manifestations of the Bardet-Biedl syndrome in the other family. As an autosomal recessive disorder, the gene of the Bardet-Biedl syndrome might have an effect on obesity, hypertension, renal disease, and possibly the mental retardation found among the relatives. The relevant literature was reviewed. | |||||
| 書誌情報 |
Acta medica et biologica en : Acta medica et biologica 巻 44, 号 3, p. 157-161, 発行日 1996-09 |
|||||
| 出版者 | ||||||
| 出版者 | Niigata University School of Medicine | |||||
| ISSN | ||||||
| 収録物識別子タイプ | ISSN | |||||
| 収録物識別子 | 05677734 | |||||
| 書誌レコードID | ||||||
| 収録物識別子タイプ | NCID | |||||
| 収録物識別子 | AA00508361 | |||||
| 著者版フラグ | ||||||
| 値 | publisher | |||||
Share
Cite as
Wang, Vinchi, Fong, Man-Tat, Chang, Tong-Hwey, Yan, Sui-Hing, 1996, The Bardet-Biedl Syndrome : A Report of Two Families: Niigata University School of Medicine, 157–161 p.
Loading...
