Large scale deletions in the GPC3 gene may account for a minority of cases of Simpson-Golabi-Behmel syndrome.

Author:

Lindsay S,Ireland M,O'Brien O,Clayton-Smith J,Hurst J A,Mann J,Cole T,Sampson J,Slaney S,Schlessinger D,Burn J,Pilia G

Publisher

BMJ

Subject

Genetics(clinical),Genetics

Reference12 articles.

1. A previously unrecognised X-linked syndrome of dysmorphia;Simpson, J.L.; Landey, S.; New, M.; German, J.A.;Birth Defects,1975

2. A new X-linked mental retardation overgrowth syndrome?;Golabi, M.; Rosen, L.;Am JMed Genet,1984

3. A new X-linked dysplasia gigantism syndrome: identical with the Simpson dysplasia syndrome?;Behmel, A.; Plochi, E.; Rosenkranz, W.;Hum Genet,1984

4. SimpsonGolabi-Behmel syndrome: an X-linked encephalotrophoschisis syndrome;Neri, G.; Marini, R.; Cappa, M.; Borelli, P.; Opitz, J.M.;Am J Med Genet,1988

5. Simpson-Golabi-Behmel syndrome associated with renal dysplasia and embryonal tumours: localisation of the gene to Xqcen-q21;Hughes-Benzie, R.M.; Hunter, A.G.; Allanson, J.E.; Mackenzie, A.E.;AmJtMed Genet,1994

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