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A novel RSK2 (RPS6KA3) gene mutation associated with abnormal brain MRI findings in a family with Coffin–Lowry syndrome

✍ Scribed by Yueying Wang; Jose E. Martinez; Glen L. Wilson; Xi-Yu He; Cathy M. Tuck-Muller; Paul Maertens; Wladimir Wertelecki; Tian-Jian Chen


Publisher
John Wiley and Sons
Year
2006
Tongue
English
Weight
249 KB
Volume
140A
Category
Article
ISSN
1552-4825

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## Abstract Axenfeld‐Rieger Syndrome (ARS) is a genetically heterogeneous birth defect characterized by malformation of the anterior segment of the eye associated with glaucoma. Mutation of the __PITX2__ homeobox gene has been identified as a cause of ARS. We report a novel Arg5Trp missense mutatio