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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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| Päätekijät: | , , , , , , , , , , , , , , , , , |
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| Aineistotyyppi: | Artigo |
| Kieli: | Inglês |
| Julkaistu: |
Elsevier
2013
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| Aiheet: | |
| Linkit: | 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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