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Spastic paraplegia, glaucoma and mental retardation — in three sibilings. A new genetic syndrome

✍ Scribed by J. HEIJBEL; S. JAGELL

Book ID
114808842
Publisher
John Wiley and Sons
Year
2009
Tongue
English
Weight
457 KB
Volume
94
Category
Article
ISSN
0018-0661

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Identical twins with mental retardation,
Identical twins with mental retardation, dysarthria, progressive spastic paraplegia, and brachydactyly type E: a new syndrome or variant of Fitzsimmons-Guilbert syndrome?
✍ Lacassie, Yves; Arriaza, Marta I.; Duncan, M. Caroline; Dijamco, Cristino; McElv 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 28 KB

We report on concordantly affected female identical twins with mental retardation, dysarthria, progressive spastic paraplegia, and brachydactyly type E. The most similar condition reported is the syndrome described by Fitzsimmons and Guilbert in uniovular twins characterized by progressive spastic p