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...

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Detalles Bibliográficos
Autores principales: Tuzovic, Lea, Yu, Lan, Zeng, Wenqi, Li, Xiang, Lu, Hong, Lu, Hsiao-Mei, Gonzalez, Kelly DF, Chung, Wendy K
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Landes Bioscience 2013
Materias:
Research Paper
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

Internet

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

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