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22q11.2 microduplication in two patients with bladder exstrophy and hearing impairment

✍ Scribed by Johanna Lundin; Cilla Söderhäll; Lina Lundén; Anna Hammarsjö; Iréne White; Jacqueline Schoumans; Göran Läckgren; Christina Clementson Kockum; Agneta Nordenskjöld

Book ID
116433237
Publisher
Elsevier Science
Year
2010
Tongue
English
Weight
413 KB
Volume
53
Category
Article
ISSN
1769-7212

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Polymicrogyria in a child with inv dup d
Polymicrogyria in a child with inv dup del(9p) and 22q11.2 microduplication
✍ A.L. Mosca; P. Callier; L. Faivre; N. Marle; N. Mejean; C. Thauvin-Robinet; A. M 📂 Article 📅 2009 🏛 John Wiley and Sons 🌐 English ⚖ 146 KB 👁 1 views

## Abstract Polymicrogyria (PMG) is a relatively common malformation of the cortex for which the pathogenesis remains poorly understood. Both acquired and genetic causes are known, and to date more than 70 cases of PMG have been associated with chromosomal abnormalities. Here we report on a 12‐year