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AEC syndrome: further evidence of a common genetic etiology with Rapp–Hodgkin syndrome

✍ Scribed by L. Sorasio; G.B. Ferrero; E. Garelli; G. Brunello; C. Martano; A. Carando; E. Belligni; I. Dianzani; M. Cirillo Silengo


Book ID
116432996
Publisher
Elsevier Science
Year
2006
Tongue
English
Weight
267 KB
Volume
49
Category
Article
ISSN
1769-7212

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Further evidence for genetic heterogenei
✍ Wang, Tso-Ren ;Lin, Shio-Jean ;Opitz, John M. ;Reynolds, James F. 📂 Article 📅 1987 🏛 John Wiley and Sons 🌐 English ⚖ 266 KB 👁 2 views

We report on 2 brothers with severe manifestations of the whistling-face/windmill-vane-hand syndrome (also called "craniocarpotarsal dystrophy"; Freeman-Sheldon syndrome); they were born to normal, nonconsanguineous parents. Our observations support the theory of causal heterogeneity of this syndrom