𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Acromegaly and type 1 neurofibromatosis. Is association of both conditions due to chance?

✍ Scribed by Checa Garrido, Antoni; del Pozo Picó, Carlos


Book ID
125461085
Publisher
Elsevier
Year
2013
Weight
287 KB
Volume
60
Category
Article
ISSN
2173-5093

No coin nor oath required. For personal study only.


📜 SIMILAR VOLUMES


Usher syndrome type 1 due to missense mu
✍ Elvir Becirovic; Inga Ebermann; Ditta Nagy; Eberhart Zrenner; Mathias Wolfgang S 📂 Article 📅 2008 🏛 John Wiley and Sons 🌐 English ⚖ 235 KB

## Communicated by Henrik Dahl Usher syndrome (USH) is an autosomal recessive condition characterized by sensorineural hearing loss, vestibular dysfunction, and visual impairment due to retinitis pigmentosa. Truncating mutations in the cadherin-23 gene (CDH23) result in Usher syndrome type 1D (USH1

Example of somatic mosaicism in a series
✍ PJ Ainsworth; PK Chakraborty; R Weksberg 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 194 KB 👁 2 views

Neurofibromatosis type 1 (NF1), affecting primarily the growth of neural crest-derived tissues, is one of the most common autosomal dominant genetic disorders with an unusually high spontaneous mutation rate. In four cases of sporadic NF1, demonstrated by hemizygosity to have a deletion involving th