Spectrum of NSD1 mutations in Sotos and Weaver syndromes |
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| Authors: | Rio M Clech L Amiel J Faivre L Lyonnet S Le Merrer M Odent S Lacombe D Edery P Brauner R Raoul O Gosset P Prieur M Vekemans M Munnich A Colleaux L Cormier-Daire V |
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| Affiliation: | Unité de Recherche sur les Handicaps Génétiques de l''Enfant, INSERM U-393, et Département de Génétique, Hôpital Necker-Enfants Malades, Paris, France. |
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| Abstract: | Interestingly, mental retardation was consistently more severe in patients with NSD1 deletions. Macrocephaly and facial gestalt but not overgrowth and advanced bone age were consistently observed in Sotos syndrome patients. We suggest therefore considering macrocephaly and facial gestalt as mandatory criteria for the diagnosis of Sotos syndrome and overgrowth and advanced bone age as minor criteria. |
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