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Fraser syndrome: Diagnosed in a 50-year-old museum specimen

✍ Scribed by El�ioglu, H. Nursel ;Berry, A. Caroline


Publisher
John Wiley and Sons
Year
2000
Tongue
English
Weight
332 KB
Volume
94
Category
Article
ISSN
0148-7299

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Smith-Lemli-Opitz syndrome diagnosed in
✍ Oostra, Roelof-Jan; Baljet, Bob; Schutgens, Ruud B. H.; Hennekam, Raoul C. M. 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 357 KB

The Museum Vrolik collection of human anatomy comprises 360 recently redescribed specimens with congenital anomalies. The external findings in one of these specimens, originally described by Willem Vrolik (1801-1863) 130 years ago, were suggestive of Smith-Lemli-Opitz (SLO) syndrome. Cholesterol syn