Identification of the first intragenic deletion of the PITX2 gene causing an Axenfeld-Rieger Syndrome: case report

doi:10.1186/1471-2350-7-82

BMC Medical Genetics

Volume 7

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de la Houssaye G
Bieche I
Roche O
Vieira V
Laurendeau I
Arbogast L
Zeghidi H
Rapp P
Halimi P
Vidaud M
Dufier JL
Menasche M
Abitbol M

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de la Houssaye G
Bieche I
Roche O
Vieira V
Laurendeau I
Arbogast L
Zeghidi H
Rapp P
Halimi P
Vidaud M
Dufier JL
Menasche M
Abitbol M
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Case report

Identification of the first intragenic deletion of the PITX2 gene causing an Axenfeld-Rieger Syndrome: case report

Guillaume de la Houssaye¹ , Ivan Bieche² , Olivier Roche¹^,3 , Véronique Vieira¹ , Ingrid Laurendeau² , Laurence Arbogast¹ , Hatem Zeghidi³ , Philippe Rapp³ , Philippe Halimi⁴ , Michel Vidaud² , Jean-Louis Dufier¹^,3 , Maurice Menasche¹ and Marc Abitbol¹^,3

¹Centre de Recherche Thérapeutique en Ophtalmologie, EA n°2502, Faculté de Médecine René Descartes, site Necker, 156 rue de Vaugirard 75730 Paris cedex 15, Université Paris V, Paris, France

²Laboratoire de Génétique Moleculaire-INSERM U745, Faculté des Sciences Pharmaceutiques et Biologiques, Université Paris V, Paris, France

³CHU Necker Enfants Malades, Service d'ophtalmologie, 149, rue de Sèvres 75 Paris cedex 15, France

⁴Service de radiologie et d'imagerie médicale de Hôpital Européen Georges Pompidou, 20-40 Rue Leblanc, 75908 Paris Cedex 15, France

author email corresponding author email

BMC Medical Genetics 2006, 7:82doi:10.1186/1471-2350-7-82


Published:	29 November 2006

Additional files

Additional File 1:

List of primers. List of primers used and the expected PCR product size

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