Germline mosaicism in neurofibromatosis type 1 due to a paternally derived multi-exon deletion

Example of somatic mosaicism in a series

Example of somatic mosaicism in a series of de novo neurofibromatosis type 1 cases due to a maternally derived deletion

✍ 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