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Intragenic deletion in theLARGEgene causes Walker-Warburg syndrome

✍ Scribed by Jeroen van Reeuwijk; Prabhjit K. Grewal; Mustafa A. M. Salih; Daniel Beltrán-Valero de Bernabé; Jenny M. McLaughlan; Caroline B. Michielse; Ralf Herrmann; Jane E. Hewitt; Alice Steinbrecher; Mohamed Z. Seidahmed; Mohamed M. Shaheed; Abdullah Abomelha; Han G. Brunner; Hans van Bokhoven; Thomas Voit


Book ID
106134550
Publisher
Springer
Year
2007
Tongue
English
Weight
333 KB
Volume
121
Category
Article
ISSN
0340-6717

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Prenatal diagnosis of Walker-Warburg syn
✍ Gasser, B.; Lindner, V.; Dreyfus, M.; Feidt, X.; Leissner, P.; Treisser, A.; Sto 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 41 KB 👁 2 views

Walker-Warburg syndrome (WWS) is an autosomal recessive condition characterized by diffuse neurodysplasia, resulting in brain and eye abnormalities. We report on 3 prenatally diagnosed cases of this syndrome born to a consanguineous couple. An ultrasonographic examination showed hydrocephalus at th