𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Mutations in TPM3 are a common cause of congenital fiber type disproportion

✍ Scribed by Nigel F. Clarke; Hanna Kolski; Danielle E. Dye; Esther Lim; Robert L. L. Smith; Rakesh Patel; Michael C. Fahey; Rémi Bellance; Norma B. Romero; Edward S. Johnson; Annick Labarre-Vila; Nicole Monnier; Nigel G. Laing; Kathryn N. North


Publisher
John Wiley and Sons
Year
2008
Tongue
English
Weight
238 KB
Volume
63
Category
Article
ISSN
0364-5134

No coin nor oath required. For personal study only.


📜 SIMILAR VOLUMES


A variable combination of features of No
✍ Ulrike Hüffmeier; Martin Zenker; Juliane Hoyer; Raimund Fahsold; Anita Rauch 📂 Article 📅 2006 🏛 John Wiley and Sons 🌐 English ⚖ 204 KB 👁 1 views

## Abstract Signs of neurofibromatosis type 1 (NF1) and Noonan syndrome (NS), two distinct autosomal dominant disorders, occur together in patients reported as Watson syndrome (WS), neurofibromatosis‐Noonan syndrome (NFNS), partial LEOPARD syndrome, NS with features of NF1, and NF1 with Noonan‐like