Article
Segregation of FRAXE in a large family: clinical, psychometric, cytogenetic, and molecular data.
American journal of human genetics - 1 Nov 1994
Hamel B C, Smits A P, de Graaff E, Smeets D F, Schoute F, Eussen B H, Knight S J, Davies K E, Assman-Hulsmans C F, Oostra B A
Abstract excerpt
During an ongoing study on X-linked mental retardation, we ascertained a large family in which mild mental retardation was cosegregating with a fragile site at Xq27-28. Clinical, psychometric, cytogenetic, and molecular studies were performed. Apart from mild mental retardation, affected males and females did not show a specific clinical phenotype. Psychometric assessment of four representative affected...
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