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22q11.2 Microduplication in Two Patients with Bladder Exstrophy and Hearing Impairment

✍ Scribed by Agneta Nordenskjöld; Johanna Lundin; Cilla Soderhall; Lina Lundén; Anna Hammarsjö; Irene White; Jacqueline Schoumans; Goran Lackgren; Christina Clementson Kockum

Book ID
116693920
Publisher
Elsevier Science
Year
2010
Tongue
English
Weight
44 KB
Volume
6
Category
Article
ISSN
1477-5131

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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