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• (author = "Stolte-Dijkstra, I")
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Nicolaides-Baraitser syndrome: Delineation of the phenotype.

Author(s) : Sousa, SB , Abdul-Rahman, OA , Bottani, A , Cormier-Daire, V , Fryer, A , Gillessen-Kaesbach, G , Horn, D , Josifova, D , Kuechler, A
Description : 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 ...
Repository : UCL Eprints , View repository documents
Language(s) : English
Subject(s) : Abnormalities, Multiple, Adolescent, Adult, Child, Child, Preschool, Disease Progression, Female, Follow-Up Studies, Humans, Infant, Infant, Newborn, Male, Phenotype, Syndrome, Young Adult
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Publication Date(s) : 2009-08-01