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Segregation of FRAXE in a large family: clinical, psychometric, cytogenetic, and molecular data.

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 f...

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Autors principals: 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.
Format: Artigo
Idioma:Inglês
Publicat: 1994
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC1918338/
https://ncbi.nlm.nih.gov/pubmed/7977354
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