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Direct linkde Vries, P. J.; McCartney, D. L.; McCartney, E.; Woolf, D.; Wozencroft, D. – Journal of Intellectual Disability Research, 2006
Background: Roifman syndrome (OMIM 300258) is a multi-system disorder with a physical phenotype that includes B-cell immunodeficiency, intra-uterine and postnatal growth retardation, spondyloepiphyseal dysplasia, retinal dystrophy and characteristic facial dysmorphism. So far, six cases, all boys, have been reported in the literature. Roifman…
Descriptors: Cognitive Ability, Mental Retardation, Case Studies, Males
