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Article

Nicolaides-Baraitser syndrome: Delineation of the phenotype.

American journal of medical genetics. Part A - 1 Aug 2009

Sousa Sérgio B, Abdul-Rahman Omar A, Bottani Armand, Cormier-Daire Valérie, Fryer Alan, Gillessen-Kaesbach Gabriele, Horn Denise, Josifova Dragana, Kuechler Alma, Lees Melissa, MacDermot Kay, Magee Alex, Morice-Picard Fanny, Rosser Elizabeth, Sarkar Ajoy, Shannon Nora, Stolte-Dijkstra Irene, Verloes Alain, Wakeling Emma, Wilson Louise, Hennekam Raoul C M

Abstract excerpt

Nicolaides-Baraitser syndrome (NBS) is an infrequently described condition, thus far reported in five cases. In order to delineate the phenotype and its natural history in more detail, we gathered data on 18 hitherto unreported patients through a multi-center collaborative study, and follow-up data of the earlier reported patients. A detailed comparison of the 23 patients is provided. NBS is a distinct and...

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PMID: 19606471
DOI: 10.1002/ajmg.a.32956

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