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Type: Thesis
Title: Identification and characterisation of the gene for Börjeson-Forssman-Lehmann Syndrome.
Author: Lower, Karen Marie
Issue Date: 2003
School/Discipline: Dept. of Paediatrics
Abstract: Mental retardation (MR) affects approximately 2-3% of the population. A high proportion of cases is due to genetic factors, with estimates of approximately 25% of MR being caused by genes on the X chromosome. One of the earliest X-linked forms of MR described was Börjeson-Forssman-Lehmann syndrome (BFLS; MIM 301900). Affected males display a phenotype of mild to severe MR, gynecomastia, hypoplastic external genitalia, obesity, deep set eyes, visual problems, "heavy" face, long ears (specifically earlobes), shortened toes and tapered fingers, with variable features including epilepsy, microcephaly and short stature. The gene for BFLS was known to map to a large region on Xq26-q27; however, the molecular basis of BFLS remained unknown. This research project refined the localisation of the BFLS gene, identified the gene, and completed preliminary analysis of the cellular function of the protein.
Advisor: Gecz, Jozef
Mulley, John
Dissertation Note: Thesis (Ph.D.) -- University of Adelaide, Dept. of Paediatrics, 2003
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