Are all Xq26.2 duplications overlapping GPC3 on array-CGH a cause of Simpson-Golabi-Behmel syndrome? When do we need transcript analysis?

Vuillaume, M-L; Moizard, M-P; Hammouche, E; Delrue, M-A; Perrin, L; Maftei, C; Dupont, C; Drunat, S; Cottereau, E; Baumann, C; Toutain, A

Vuillaume, M-L; Moizard, M-P; Hammouche, E; Delrue, M-A; Perrin, L; Maftei, C; Dupont, C; Drunat, S; Cottereau, E; Baumann, C; Toutain, A.

Affiliation

Vuillaume ML; Service de Génétique, CHU Bretonneau, Tours, France.
Moizard MP; Unité INSERM U930, Université François Rabelais, Tours, France.
Hammouche E; Service de Génétique, CHU Bretonneau, Tours, France.
Delrue MA; Unité INSERM U930, Université François Rabelais, Tours, France.
Perrin L; Service de Génétique, CHU Bretonneau, Tours, France.
Maftei C; Medical Genetics Division, CHU Sainte-Justine, Montreal, Canada.
Dupont C; Unité de Génétique Clinique, Département de Génétique, CHU Robert Debré, Paris, France.
Drunat S; Medical Genetics Division, CHU Sainte-Justine, Montreal, Canada.
Cottereau E; Cytogenetic Laboratory, CHU Sainte-Justine, Montreal, Canada.
Baumann C; Unité Fonctionnelle de Cytogénétique, Département de Génétique, CHU Robert Debré, Paris, France.
Toutain A; UF de Génétique Moléculaire, Département de Génétique, CHU Robert Debré, Paris, France.

Clin Genet ; 93(5): 1111-1113, 2018 05.

Article in En | MEDLINE | ID: mdl-29372559

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Arrhythmias, Cardiac / Genetic Diseases, X-Linked / Glypicans / Gigantism / Heart Defects, Congenital / Intellectual Disability Limits: Humans Language: En Journal: Clin Genet Year: 2018 Document type: Article Affiliation country: Francia Country of publication: Dinamarca

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