ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardation.

doi:10.1093/hmg/11.8.981

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Article

ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardation.

Human molecular genetics - 15 Apr 2002

Bienvenu Thierry, Poirier Karine, Friocourt Gaelle, Bahi Nadia, Beaumont Delphine, Fauchereau Fabien, Ben Jeema Lamia, Zemni Ramzi, Vinet Marie-Claude, Francis Fiona, Couvert Philippe, Gomot Marie, Moraine Claude, van Bokhoven Hans, Kalscheuer Vera, Frints Suzanne, Gecz Josef, Ohzaki Kanae, Chaabouni Habiba, Fryns Jean-Pierre, Desportes Vincent, Beldjord Cherif, Chelly Jamel

Abstract excerpt

Investigation of a critical region for an X-linked mental retardation (XLMR) locus led us to identify a novel Aristaless related homeobox gene (ARX ). Inherited and de novo ARX mutations, including missense mutations and in frame duplications/insertions leading to expansions of polyalanine tracts in ARX, were found in nine familial and one sporadic case of MR. In contrast to other genes involved in XLMR, ARX...

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PMID: 11971879
DOI: 10.1093/hmg/11.8.981

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ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardation.PMID 11971879Read ↗

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