Malformation of cortical and vascular development in one family with parietal foramina determined by an ALX4 homeobox gene mutation

dc.contributor.authorValente, Marcelo [UNIFESP]
dc.contributor.authorValente, Kette D. [UNIFESP]
dc.contributor.authorSugayama, Sofia SM [UNIFESP]
dc.contributor.authorKim, Chong Ae [UNIFESP]
dc.contributor.institutionUniversidade de São Paulo (USP)
dc.contributor.institutionUniversidade Federal de São Paulo (UNIFESP)
dc.date.accessioned2018-06-15T13:04:54Z
dc.date.available2018-06-15T13:04:54Z
dc.date.issued2004-11-01
dc.description.abstractVascular and cortical anomalies have been found in a family with parietal foramina type 2 (PFM2), which is determined by the ALX4 gene. It is believed that ALX4 has a bone-restricted expression. We report a case of PFM with age-related size variation in a 4-year-old boy, as well as in his mother, aunt and grandfather. MR imaging of the child demonstrates prominent malformations of cortical (polymicrogyric cortex with an unusual infolding pattern) and vascular development (persistence median prosencephalic vein), associated with high tentorial incisure periatrial white matter changes.en
dc.description.affiliationUniv Sao Paulo, Sch Med, Pediat Neuroradiol Div, Sao Paulo, Brazil
dc.description.affiliationUniv Sao Paulo, Sch Med, Clin Genet Unit, Sao Paulo, Brazil
dc.description.affiliationUniv Sao Paulo, Sch Med, Dept Pediat, Sao Paulo, Brazil
dc.description.affiliationUniv Sao Paulo, Sch Med, Div Neuroradiol, Sao Paulo, Brazil
dc.description.affiliationUniv Sao Paulo, Sch Med, Dept Radiol, Sao Paulo, Brazil
dc.description.affiliationUniv Sao Paulo, Sch Med, Clin Neurophysiol Lab, Sao Paulo, Brazil
dc.description.affiliationUniv Sao Paulo, Sch Med, Dept Psychiat, Sao Paulo, Brazil
dc.description.sourceWeb of Science
dc.format.extent1836-1839
dc.identifierhttp://www.ajnr.org/content/25/10/1836.abstract
dc.identifier.citationAmerican Journal Of Neuroradiology. Oak Brook: Amer Soc Neuroradiology, v. 25, n. 10, p. 1836-1839, 2004.
dc.identifier.issn0195-6108
dc.identifier.urihttp://repositorio.unifesp.br/handle/11600/42318
dc.identifier.wosWOS:000225344200040
dc.language.isoeng
dc.publisherAmer Soc Neuroradiology
dc.relation.ispartofAmerican Journal Of Neuroradiology
dc.rightsAcesso restrito
dc.titleMalformation of cortical and vascular development in one family with parietal foramina determined by an ALX4 homeobox gene mutationen
dc.typeArtigo
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