Mutations in PHF8 are associated with X linked mental retardation and cleft lip/cleft palate

Truncating mutations were found in the PHF8 gene (encoding the PHD finger protein 8) in two unrelated families with X linked mental retardation (XLMR) associated with cleft lip/palate (MIM 300263). Expression studies showed that this gene is ubiquitously transcribed, with strong expression of the mo...

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Dades bibliogràfiques
Autors principals: Laumonnier, F, Holbert, S, Ronce, N, Faravelli, F, Lenzner, S, Schwartz, C, Lespinasse, J, Van Esch, H, Lacombe, D, Goizet, C, Phan-Dinh, T, van Bokhoven, H, Fryns, J, Chelly, J, Ropers, H, Moraine, C, Hamel, B, Briault, S
Format: Artigo
Idioma:Inglês
Publicat: BMJ Group 2005
Matèries:
Letter to JMG
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC1735927/
https://ncbi.nlm.nih.gov/pubmed/16199551
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.2004.029439
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