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A human de novo mutation in MYH10 phenocopies the loss of function mutation in mice
We used whole exome sequence analysis to investigate a possible genetic etiology for a patient with the phenotype of intrauterine growth restriction, microcephaly, developmental delay, failure to thrive, congenital bilateral hip dysplasia, cerebral and cerebellar atrophy, hydrocephalus, and congenit...
| Autores principales: | , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Landes Bioscience
2013
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3927488/ https://www.ncbi.nlm.nih.gov/pubmed/25003005 http://dx.doi.org/10.4161/rdis.26144 |