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A 1.6-Mb Microdeletion in Chromosome 17q22 Leads to NOG-Related Symphalangism Spectrum Disorder without Intellectual Disability

Microdeletions in chromosome 17q22, where the NOG gene resides, have been reported leading to the NOG-related symphalangism spectrum disorder (NOG-SSD), intellectual disability and other developmental abnormalities. In this study we reported a dominant Chinese Han family segregating with typical NOG...

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Detalles Bibliográficos
Autores principales: Pang, Xiuhong, Luo, Huajie, Chai, Yongchuan, Wang, Xiaowen, Sun, Lianhua, He, Longxia, Chen, Penghui, Wu, Hao, Yang, Tao
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2015
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4376726/
https://www.ncbi.nlm.nih.gov/pubmed/25815513
http://dx.doi.org/10.1371/journal.pone.0120816