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Phenotypic variability at the TGF-β1 locus in Camurati-Engelmann disease

✍ Scribed by Ana Campos-Xavier; Jorge M. Saraiva; Ravi Savarirayan; Alain Verloes; Josué Feingold; Laurence Faivre; Arnold Munnich; Martine Le Merrer; Valérie Cormier-Daire


Book ID
106133606
Publisher
Springer
Year
2001
Tongue
English
Weight
92 KB
Volume
109
Category
Article
ISSN
0340-6717

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Intrafamilial phenotypic variability in
✍ Makita, Yoshio; Nishimura, Gen; Ikegawa, Shiro; Ishii, Takuma; Ito, Yoshiya; Oku 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 24 KB 👁 2 views

We report on clinical and radiologic manifestations in a 3 -generation Japanese family with Engelmann disease (ED) or progressive diaphyseal dysplasia. A large variation of phenotype was remarkable among 12 affected family members. Of the 12 patients, 7 had full manifestations of ED, such as bilater