Waardenburg syndrome (WS) comprises sensorineural hearing loss, hypopigmentation of skin and hair, and pigmentary disturbances of the irides. Four types of WS have been classified to date; in WS type IV (WS4), patients additionally have colonic aganglionosis (Hirschsprung disease, HSCR). Mutations i
A mouse model of Waardenburg syndrome type 4 with a new spontaneous mutation of the endothelin-B receptor gene
β Scribed by Yoshibumi Matsushima; Yusuke Shinkai; Yasuhito Kobayashi; Michihiro Sakamoto; Tetsuo Kunieda; Masayoshi Tachibana
- Publisher
- Springer-Verlag
- Year
- 2002
- Tongue
- English
- Weight
- 684 KB
- Volume
- 13
- Category
- Article
- ISSN
- 0938-8990
No coin nor oath required. For personal study only.
π SIMILAR VOLUMES
## Abstract We describe two brothers with a unique pattern of malformations that includes coloboma (iris, optic nerve), high forehead, severe retrognathia, mental retardation, and agenesis of the corpus callosum (ACC). Both boys have lowβset cupped ears with sensorineural hearing loss, normal phall
To elucidate if genetic variants in the bradykinin B2 receptor (B2) gene occur that could affect receptor expression and function, we screened for mutations in the promoter and in the coding region of the human B2 gene. In our initial study we analyzed 92 consecutive, unrelated subjects (including 2
von Willebrand Disease (vWD) is the most frequently inherited bleeding disorder in humans, and is caused by a qualitative and/or quantitative abnormality of the von Willebrand factor (vWF). A large number of defects that cause qualitative variants have been located in the A1 domain of the vWF, which