Mutations in MED12 Cause X-Linked Ohdo Syndrome

Ohdo syndrome comprises a heterogeneous group of disorders characterized by intellectual disability (ID) and typical facial features, including blepharophimosis. Clinically, these blepharophimosis-ID syndromes have been classified in five distinct subgroups, including the Maat-Kievit-Brunner (MKB) t...

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Autors principals: Vulto-van Silfhout, Anneke T., de Vries, Bert B.A., van Bon, Bregje W.M., Hoischen, Alexander, Ruiterkamp-Versteeg, Martina, Gilissen, Christian, Gao, Fangjian, van Zwam, Marloes, Harteveld, Cornelis L., van Essen, Anthonie J., Hamel, Ben C.J., Kleefstra, Tjitske, Willemsen, Michèl A.A.P., Yntema, Helger G., van Bokhoven, Hans, Brunner, Han G., Boyer, Thomas G., de Brouwer, Arjan P.M.
Format: Artigo
Idioma:Inglês
Publicat: Elsevier 2013
Matèries:
Report
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC3591845/
https://ncbi.nlm.nih.gov/pubmed/23395478
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2013.01.007
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