Transcription Factor SOX3 Is Involved in X-Linked Mental Retardation with Growth Hormone Deficiency

Physical mapping of the breakpoints of a pericentric inversion of the X chromosome (46,X,inv[X][p21q27]) in a female patient with mild mental retardation revealed localization of the Xp breakpoint in the IL1RAPL gene at Xp21.3 and the Xq breakpoint near the SOX3 gene (SRY [sex determining region Y]–...

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Detalhes bibliográficos
Main Authors: Laumonnier, Frédéric, Ronce, Nathalie, Hamel, Ben C. J., Thomas, Paul, Lespinasse, James, Raynaud, Martine, Paringaux, Christine, van Bokhoven, Hans, Kalscheuer, Vera, Fryns, Jean-Pierre, Chelly, Jamel, Moraine, Claude, Briault, Sylvain
Formato: Artigo
Idioma:Inglês
Publicado em: The American Society of Human Genetics 2002
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC420004/
https://ncbi.nlm.nih.gov/pubmed/12428212
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