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Title: Evidence of neuronal migration disorders in Knobloch syndrome: clinical and molecular analysis of two novel families
Authors: Kliemann, S. E.
Waetge, RTL
Suzuki, O. T.
Passos-Bueno, M. R.
Rosemberg, S.
Universidade Federal de São Paulo (UNIFESP)
Santa Casa São Paulo Sch Med
Universidade de São Paulo (USP)
Keywords: Knobloch syndrome
ocular defects
neuronal migration disorders
Issue Date: 15-May-2003
Publisher: Wiley-Blackwell
Citation: American Journal of Medical Genetics Part A. New York: Wiley-liss, v. 119A, n. 1, p. 15-19, 2003.
Abstract: Knobloch syndrome is an autosomal recessive disease characterized by the early onset of severe myopia, vitreoretinal degeneration with retinal detachment, macular abnormalities, and midline encephalocele, mainly in the occipital region. Intra and interfamilial variability is present since the encephalocele is not found in all patients, and the degree of myopia is variable. Analysis of the associated malformations suggests alterations during early neuroectodermal morphogenesis. Only 24 cases have been reported. Recently, the gene responsible for the syndrome, mapped to 21q22.3, was identified. the present study reports on four new cases, revealing the existence of neuronal migratory defects associated with the disorder for the first time. (C) 2003 Wiley-Liss, Inc.
ISSN: 0148-7299
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