Identification of 11 potentially relevant gene mutations involved in growth retardation, intellectual disability, joint contracture, and hepatopathy

The multisystemic clinical characteristics of growth retardation, intellectual disability, joint contracture, and hepatopathy in humans are rare and there are no clear diagnoses of these conditions. However, previous studies using exome sequencing have suggested that they are caused by gene mutation...

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Detalles Bibliográficos
Autores principales: Diao, Hongyan, Zhu, Peng, Dai, Yong, Chen, Wenbiao
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer Health 2018
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6257554/
https://www.ncbi.nlm.nih.gov/pubmed/30431579
http://dx.doi.org/10.1097/MD.0000000000013117

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6257554/
https://www.ncbi.nlm.nih.gov/pubmed/30431579
http://dx.doi.org/10.1097/MD.0000000000013117

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