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Novel mutation of Endothelin-B receptor gene in Waardenburg–Hirschsprung disease

✍ Scribed by Surasak Sangkhathat; Piyawan Chiengkriwate; Takeshi Kusafuka; Sakda Patrapinyokul; Masahiro Fukuzawa


Book ID
106056472
Publisher
Springer-Verlag
Year
2005
Tongue
English
Weight
240 KB
Volume
21
Category
Article
ISSN
0179-0358

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✍ Syrris, Petros; Carter, Nicholas D.; Patton, Michael A. 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 10 KB 👁 2 views

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