13-P140 The role of Pax6 in morphological and molecular development of thalamus and prethalamus
โ Scribed by Isabel Martin Caballero; Martin Manuel; David Price
- Book ID
- 119328144
- Publisher
- Elsevier Science
- Year
- 2009
- Tongue
- English
- Weight
- 39 KB
- Volume
- 126
- Category
- Article
- ISSN
- 0925-4773
No coin nor oath required. For personal study only.
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We report on a girl with a duplication of chromosome band 11p12โ13, which includes the Wilms tumor gene (WT1) and the aniridia gene (PAX6). The girl had borderline developmental delay, mild facial anomalies, and eye abnormalities. Eye findings were also present in most of the 11 other published case
## Abstract A series of 125 patients referred primarily with aniridia classified as either sporadic (74), familial (24), or in association with WAGR syndrome (14) or other malformations (13) was analysed for mutations, initially by karyotyping and targeted FISH analysis of chromosome 11p13. These m