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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Päätekijät: 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.
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: Elsevier 2012
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Article
Linkit: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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