𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Genotype-Phenotype Correlations Emerging from the Identification of Missense Mutations in MBTPS2

✍ Scribed by Bornholdt, Dorothea; Atkinson, T. Prescott; Bouadjar, Bakar; Catteau, Benoit; Cox, Helen; De Silva, Deepthi; Fischer, Judith; Gunasekera, Chalukya N.; Hadj-Rabia, Smaïl; Happle, Rudolf; Holder-Espinasse, Muriel; Kaminski, Elke; König, Arne; Mégarbané, André; Mégarbané, Hala; Neidel, Ulrike; Oeffner, Frank; Oji, Vinzenz; Theos, Amy; Traupe, Heiko; Vahlquist, Anders; van Bon, Bregje W.; Virtanen, Marie; Grzeschik, Karl-Heinz


Book ID
126453732
Publisher
John Wiley and Sons
Year
2013
Tongue
English
Weight
446 KB
Category
Article
ISSN
1059-7794

No coin nor oath required. For personal study only.


📜 SIMILAR VOLUMES


Genotype–phenotype correlations of pheoc
✍ Sarah M. Nielsen; Wendy S. Rubinstein; Darcy L. Thull; Michaele J. Armstrong; El 📂 Article 📅 2010 🏛 John Wiley and Sons 🌐 English ⚖ 129 KB 👁 2 views

## Abstract Von Hippel–Lindau (VHL) disease type 2A is an inherited tumor syndrome characterized by predisposition to pheochromocytoma (pheo), retinal hemangioma (RA), and central nervous system hemangioblastoma (HB). Specific VHL subtypes display genotype–phenotype correlations but, unlike other f