Duplication of exon 2 of the GPC3 gene in a case of Simpson-Golabi-Behmel syndrome
Author:
Affiliation:
1. Centre Hospitalo-Universitaire - Service de Génétique; Tours France
2. Faculté de Médecine - UMR INSERM U930; Tours France
3. Service de Génétique; Centre Hospitalo-Universitaire; Nantes France
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.36199/fullpdf
Reference18 articles.
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2. Mapping of a new SGBS locus to chromosome Xp22 in a family with a severe form of Simpson-Golabi-Behmel syndrome;Brzustowicz;Am J Hum Genet,1999
3. A novel X-linked recessive mental retardation syndrome comprising macrocephaly and ciliary dysfunction is allelic to oral-facial-digital type I syndrome;Budny;Hum Genet,2006
4. Phenotypic spectrum of Simpson-Golabi-Behmel syndrome in a series of 42 cases with a mutation in GPC3 and review of the literature;Cottereau;Am J Med Genet Part C Semin Med Genet,2013
5. The role of glypican-3 in the regulation of body size and cancer;Filmus;Cell Cycle,2008
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1. CUGC for Simpson-Golabi-Behmel syndrome (SGBS);European Journal of Human Genetics;2019-01-25
2. Mutation update for the GPC3 gene involved in Simpson-Golabi-Behmel syndrome and review of the literature;Human Mutation;2018-04-24
3. Are all Xq26.2 duplications overlapping GPC3 on array-CGH a cause of Simpson-Golabi-Behmel syndrome? When do we need transcript analysis?;Clinical Genetics;2018-01-25
4. Comment on “Whole exome sequencing and array-based molecular karyotyping as aids to prenatal diagnosis in fetuses with suspected Simpson-Golabi-Behmel syndrome”;Prenatal Diagnosis;2017-10
5. Significance of Glypican-3 (GPC3) Expression in Hepatocellular Cancer Diagnosis;Medical Science Monitor;2017-02-16
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