A small interstitial deletion in the GPC3 gene causes Simpson-Golabi-Behmel syndrome in a Dutch-Canadian family

Deletions in the heparan sulphate proteoglycan encoding glypican 3 (GPC3) gene have recently been documented in several Simpson-Golabi-Behmel syndrome (SGBS) families. However, no precisely defined SGBS mutation has been published. We report here a 13 base pair deletion which causes a frameshift and...

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Veröffentlicht in:	Journal of medical genetics 1999-01, Vol.36 (1), p.57-58
Hauptverfasser:	Xuan, Jian Y, Hughes-Benzie, Rhiannon M, MacKenzie, Alex E
Format:	Artikel
Sprache:	eng
Schlagworte:	Biological and medical sciences Bone and Bones - abnormalities Canada Chromosomes, Human, Pair 11 - genetics Cloning Complex syndromes DNA polymerase Female Frameshift Mutation glypican 3 Glypicans Heparan Sulfate Proteoglycans Heparitin Sulfate - blood Heparitin Sulfate - genetics Humans Male Males Medical genetics Medical sciences Mutation Pedigree Proteoglycans - blood Proteoglycans - genetics Sequence Analysis, DNA Sequence Deletion Short Report Simpson-Golabi-Behmel syndrome Syndrome Tumorigenesis Wilms Tumor - complications Wilms tumour X Chromosome - genetics
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