Alopecia, Neurological Defects, and Endocrinopathy Syndrome Caused by Decreased Expression of RBM28, a Nucleolar Protein Associated with Ribosome Biogenesis

Single-gene disorders offer unique opportunities to shed light upon fundamental physiological processes in humans. We investigated an autosomal-recessive phenotype characterized by alopecia, progressive neurological defects, and endocrinopathy (ANE syndrome). By using homozygosity mapping and candid...

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Αποθηκεύτηκε σε:
Λεπτομέρειες βιβλιογραφικής εγγραφής
Κύριοι συγγραφείς: Nousbeck, Janna, Spiegel, Ronen, Ishida-Yamamoto, Akemi, Indelman, Margarita, Shani-Adir, Ayelet, Adir, Noam, Lipkin, Ehud, Bercovici, Sivan, Geiger, Dan, van Steensel, Maurice A., Steijlen, Peter M., Bergman, Reuven, Bindereif, Albrecht, Choder, Mordechai, Shalev, Stavit, Sprecher, Eli
Μορφή: Artigo
Γλώσσα:Inglês
Έκδοση: American Society of Human Genetics 2008
Θέματα:
Article
Διαθέσιμο Online:https://ncbi.nlm.nih.gov/pmc/articles/PMC2427309/
https://ncbi.nlm.nih.gov/pubmed/18439547
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2008.03.014
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