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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Publicat a:Am J Hum Genet
Autors principals: 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
Format: Artigo
Idioma:Inglês
Publicat: Elsevier 2002
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Accés en línia:https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC420004/
https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/12428212/
https://ncbi.nlm.nih.govhttps://doi.org/10.1086/344661
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