Translocations Disrupting PHF21A in the Potocki-Shaffer-Syndrome Region Are Associated with Intellectual Disability and Craniofacial Anomalies

Potocki-Shaffer syndrome (PSS) is a contiguous gene disorder due to the interstitial deletion of band p11.2 of chromosome 11 and is characterized by multiple exostoses, parietal foramina, intellectual disability (ID), and craniofacial anomalies (CFAs). Despite the identification of individual genes...

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Κύριοι συγγραφείς: Kim, Hyung-Goo, Kim, Hyun-Taek, Leach, Natalia T., Lan, Fei, Ullmann, Reinhard, Silahtaroglu, Asli, Kurth, Ingo, Nowka, Anja, Seong, Ihn Sik, Shen, Yiping, Talkowski, Michael E., Ruderfer, Douglas, Lee, Ji-Hyun, Glotzbach, Caron, Ha, Kyungsoo, Kjaergaard, Susanne, Levin, Alex V., Romeike, Bernd F., Kleefstra, Tjitske, Bartsch, Oliver, Elsea, Sarah H., Jabs, Ethylin Wang, MacDonald, Marcy E., Harris, David J., Quade, Bradley J., Ropers, Hans-Hilger, Shaffer, Lisa G., Kutsche, Kerstin, Layman, Lawrence C., Tommerup, Niels, Kalscheuer, Vera M., Shi, Yang, Morton, Cynthia C., Kim, Cheol-Hee, Gusella, James F.
Μορφή: Artigo
Γλώσσα:Inglês
Έκδοση: Elsevier 2012
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Article
Διαθέσιμο Online:https://ncbi.nlm.nih.gov/pmc/articles/PMC3397276/
https://ncbi.nlm.nih.gov/pubmed/22770980
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2012.05.005
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