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
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## 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