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

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Title: Are all Xq26.2 duplications overlapping GPC3 on array-CGH a cause of Simpson-Golabi-Behmel syndrome? When do we need transcript analysis?
Authors: Vuillaume ML; Service de Génétique, CHU Bretonneau, Tours, France.; Unité INSERM U930, Université François Rabelais, Tours, France., Moizard MP; Service de Génétique, CHU Bretonneau, Tours, France.; Unité INSERM U930, Université François Rabelais, Tours, France., Hammouche E; Service de Génétique, CHU Bretonneau, Tours, France., Delrue MA; Medical Genetics Division, CHU Sainte-Justine, Montreal, Canada., Perrin L; Unité de Génétique Clinique, Département de Génétique, CHU Robert Debré, Paris, France., Maftei C; Medical Genetics Division, CHU Sainte-Justine, Montreal, Canada.; Cytogenetic Laboratory, CHU Sainte-Justine, Montreal, Canada., Dupont C; Unité Fonctionnelle de Cytogénétique, Département de Génétique, CHU Robert Debré, Paris, France., Drunat S; UF de Génétique Moléculaire, Département de Génétique, CHU Robert Debré, Paris, France., Cottereau E; Service de Génétique, CHU Bretonneau, Tours, France., Baumann C; Unité de Génétique Clinique, Département de Génétique, CHU Robert Debré, Paris, France., Toutain A; Service de Génétique, CHU Bretonneau, Tours, France.; Unité INSERM U930, Université François Rabelais, Tours, France.
Source: Clinical genetics [Clin Genet] 2018 May; Vol. 93 (5), pp. 1111-1113. Date of Electronic Publication: 2018 Jan 25.
Publication Type: Case Reports; Letter
Journal Info: Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0004 (Electronic) Linking ISSN: 00099163 NLM ISO Abbreviation: Clin Genet Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Are all Xq26.2 duplications overlapping GPC3 on array-CGH a cause of Simpson-Golabi-Behmel syndrome? When do we need transcript analysis?
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  Data: <searchLink fieldCode="AU" term="%22Vuillaume+ML%22">Vuillaume ML</searchLink>; Service de Génétique, CHU Bretonneau, Tours, France.; Unité INSERM U930, Université François Rabelais, Tours, France.<br /><searchLink fieldCode="AU" term="%22Moizard+MP%22">Moizard MP</searchLink>; Service de Génétique, CHU Bretonneau, Tours, France.; Unité INSERM U930, Université François Rabelais, Tours, France.<br /><searchLink fieldCode="AU" term="%22Hammouche+E%22">Hammouche E</searchLink>; Service de Génétique, CHU Bretonneau, Tours, France.<br /><searchLink fieldCode="AU" term="%22Delrue+MA%22">Delrue MA</searchLink>; Medical Genetics Division, CHU Sainte-Justine, Montreal, Canada.<br /><searchLink fieldCode="AU" term="%22Perrin+L%22">Perrin L</searchLink>; Unité de Génétique Clinique, Département de Génétique, CHU Robert Debré, Paris, France.<br /><searchLink fieldCode="AU" term="%22Maftei+C%22">Maftei C</searchLink>; Medical Genetics Division, CHU Sainte-Justine, Montreal, Canada.; Cytogenetic Laboratory, CHU Sainte-Justine, Montreal, Canada.<br /><searchLink fieldCode="AU" term="%22Dupont+C%22">Dupont C</searchLink>; Unité Fonctionnelle de Cytogénétique, Département de Génétique, CHU Robert Debré, Paris, France.<br /><searchLink fieldCode="AU" term="%22Drunat+S%22">Drunat S</searchLink>; UF de Génétique Moléculaire, Département de Génétique, CHU Robert Debré, Paris, France.<br /><searchLink fieldCode="AU" term="%22Cottereau+E%22">Cottereau E</searchLink>; Service de Génétique, CHU Bretonneau, Tours, France.<br /><searchLink fieldCode="AU" term="%22Baumann+C%22">Baumann C</searchLink>; Unité de Génétique Clinique, Département de Génétique, CHU Robert Debré, Paris, France.<br /><searchLink fieldCode="AU" term="%22Toutain+A%22">Toutain A</searchLink>; Service de Génétique, CHU Bretonneau, Tours, France.; Unité INSERM U930, Université François Rabelais, Tours, France.
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  Data: <searchLink fieldCode="JN" term="%220253664%22">Clinical genetics</searchLink> [Clin Genet] 2018 May; Vol. 93 (5), pp. 1111-1113. <i>Date of Electronic Publication: </i>2018 Jan 25.
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