Exome sequencing identifies a novel mutation of the GDI1 gene in a Chinese non-syndromic X-linked intellectual disability family

X-linked intellectual disability (XLID) has been associated with various genes. Diagnosis of XLID, especially for non-syndromic ones (NS-XLID), is often hampered by the heterogeneity of this disease. Here we report the case of a Chinese family in which three males suffer from intellectual disability...

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Bibliografiset tiedot
Julkaisussa:Genet Mol Biol
Päätekijät: Duan, Yongheng, Lin, Sheng, Xie, Lichun, Zheng, Kaifeng, Chen, Shiguo, Song, Hui, Zeng, Xuchun, Gu, Xueying, Wang, Heyun, Zhang, Linghua, Shao, Hao, Hong, Wenxu, Zhang, Lijie, Duan, Shan
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: Sociedade Brasileira de Genética 2017
Aiheet:
Human and Medical Genetics
Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC5596370/
https://ncbi.nlm.nih.gov/pubmed/28863211
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1590/1678-4685-GMB-2016-0249
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