12q21 Microdeletion in a fetus with Meckel syndrome involving CEP290/MKS4

European Journal of Medical Genetics - Tập 56 - Trang 580-583 - 2013
Arnaud Molin1, Guillaume Benoist2, Corinne Jeanne-Pasquier3, Nadia Elkartoufi4, Julie Litzer4, Matthieu Decamp1, Nicolas Gruchy1, Marion Durand-Malbruny1, Marianne Begorre3, Tania Attie-Bitach4,5,6, Nathalie Leporrier1
1Service de Génétique, laboratoire de Cytogénétique, CHU de Caen, Université Caen Basse-Normandie, France
2Service de Gynécologie-Obstétrique, CHU de Caen, Université Caen Basse-Normandie, France
3Service d'Anatomopathologie, CHU de Caen, Université Caen Basse-Normandie, France
4Département de Génétique, Assistance Publique – Hôpitaux de Paris – Necker Enfants Malades, Paris, France
5INSERM U-781 et Fondation IMAGINE, Hôpital Necker-Enfants Malades, Paris, France
6Université Paris-Descartes, Paris, France

Tài liệu tham khảo

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