W e describe 2 sibs who presented with ichthyotic skin at birth and subsequently developed neurologic manifestations of type 2 Gaucher disease. Type 2 Gaucher patients with and without ichthyosis manifest ultrastructural and biochemical abnormalities in the epidermis. The 2 patients described here c
โฆ LIBER โฆ
New syndrome of congenital ichthyosis with neurologic abnormalities
โ Scribed by Zunich, Janice ;Kaye, Celia I. ;Preus, ;Fraser,
- Publisher
- John Wiley and Sons
- Year
- 1983
- Tongue
- English
- Weight
- 159 KB
- Volume
- 15
- Category
- Article
- ISSN
- 0148-7299
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