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FG syndrome: the FGS2 locus revisited.
Am J Med Genet A
June 2012
Molecular and Experimental Immunology and Neurogenetics, UMR7355, University of orléans, 3b Rue de Férollerie, Orléans La Source, Cedex 2, France.
Filamin A mutation is one cause of FG syndrome.
Am J Med Genet A
August 2007
Institute for Human Genetics, University of Freiburg, Freiburg, Germany.
FG syndrome was originally described as a rare syndromic cause of X-linked mental retardation associated with congenital heart disease, anal atresia, inguinal hernia, cryptorchidism, and other anomalies. However, recent reports have highlighted the more common milder presentation which has for cardinal features developmental delay, particularly in speech, neonatal hypotonia, relative macrocephaly, dysmorphic facial features, severe constipation, and few if any congenital malformations. Thus far, five separate loci have been identified on the X chromosome but attempts at finding the responsible gene have not yet been successful.
View Article and Find Full Text PDFGenetic heterogeneity of FG syndrome: a fourth locus (FGS4) maps to Xp11.4-p11.3 in an Italian family.
Hum Genet
February 2003
Dipartimento di Patologia Generale, Facoltà di Medicina e Chirurgia, Seconda Università degli Studi di Napoli, Via Luigi De Crecchio 7, 80138 Naples, Italy.
FG syndrome (FGS, MIM 305450) is a rare X-linked recessive disorder comprising mental retardation and multiple malformations. Various families have been described to date, increasing our knowledge of the phenotype variability and making the clinical diagnosis complex, especially in sporadic patients. The first locus for FG syndrome (FGS1) was linked to chromosome region Xq12-q21.
View Article and Find Full Text PDFFG syndrome: linkage analysis in two families supporting a new gene localization at Xp22.3 [FGS3].
Am J Med Genet
September 2002
Service de Génétique, CHU Bretonneau, Tours, France.
FG syndrome (OMIM 305450) is an X-linked condition comprising mental retardation, congenital hypotonia, constipation or anal malformations, and a distinctive appearance with disproportionately large head, tall and broad forehead, cowlicks and telecanthus. In a first linkage analysis carried out on 10 families, we demonstrated heterogeneity and assigned one gene [FGS1] to region Xq12-q21.31 [Briault et al.
View Article and Find Full Text PDFFG syndrome is an X-linked condition comprising mental retardation, congenital hypotonia, macrocephaly, distinctive facial changes, and constipation or anal malformations. In a linkage analysis, we mapped a major FG syndrome locus [FGS1] to Xq13, between loci DXS135 and DXS1066. The same data, however, clearly demonstrated genetic heterogeneity.
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