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Phenotype of FOXP2 Haploinsufficiency in a Mother and Son
Disruptions in FOXP2, a transcription factor, are the only known monogenic cause of speech and language impairment. We report clinical findings for two new individuals with a submicroscopic deletion of FOXP2: a boy with severe apraxia of speech and his currently moderately affected mother. A 1.57 Mb...
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Main Authors: | , , , , , , , , |
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Formato: | Artigo |
Idioma: | Inglês |
Publicado em: |
2011
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Assuntos: | |
Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3319495/ https://ncbi.nlm.nih.gov/pubmed/22106036 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.34354 |
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