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Behavioral Features in Young Adults with FG Syndrome (Opitz-Kaveggia Syndrome)
Opitz and Kaveggia [1974] reported on a family of 5 affected males with distinctive facial appearance, mental retardation, macrocephaly, imperforate anus and hypotonia. Risheg et al. [2007] identified an identical mutation (p.R961W) in MED12 in 6 families with Opitz-Kaveggia syndrome, including a su...
में बचाया:
| मुख्य लेखकों: | , , , |
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| स्वरूप: | Artigo |
| भाषा: | Inglês |
| प्रकाशित: |
2010
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| विषय: | |
| ऑनलाइन पहुंच: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2967396/ https://ncbi.nlm.nih.gov/pubmed/20981778 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.c.30284 |
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