Deletions and de novo mutations of SOX11 are associated with a neurodevelopmental disorder with features of Coffin–Siris syndrome

BACKGROUND: SOX11 is a transcription factor proposed to play a role in brain development. The relevance of SOX11 to human developmental disorders was suggested by a recent report of SOX11 mutations in two patients with Coffin–Siris syndrome. Here we further investigate the role of SOX11 variants in...

وصف كامل

محفوظ في:
التفاصيل البيبلوغرافية
الحاوية / القاعدة:J Med Genet
المؤلفون الرئيسيون: Hempel, Annmarie, Pagnamenta, Alistair T, Blyth, Moira, Mansour, Sahar, McConnell, Vivienne, Kou, Ikuyo, Ikegawa, Shiro, Tsurusaki, Yoshinori, Matsumoto, Naomichi, Lo-Castro, Adriana, Plessis, Ghislaine, Albrecht, Beate, Battaglia, Agatino, Taylor, Jenny C, Howard, Malcolm F, Keays, David, Sohal, Aman Singh, Kühl, Susanne J, Kini, Usha, McNeill, Alisdair
التنسيق: Artigo
اللغة:Inglês
منشور في: BMJ Publishing Group 2016
الموضوعات:
Developmental Defects
الوصول للمادة أونلاين:https://ncbi.nlm.nih.gov/pmc/articles/PMC4789813/
https://ncbi.nlm.nih.gov/pubmed/26543203
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmedgenet-2015-103393
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