A novel PNPLA6 compound heterozygous mutation identified in a Chinese patient with Boucher-Neuhäuser syndrome

The combination of cerebellar degeneration, hypogonadotropic hypogonadism and chorioretinal dystrophy defines Boucher-Neuhäuser syndrome (BNS), which has been associated with autosomal-recessive mutations in the patatin-like phospholipase domain containing 6 (PNPLA6) gene. However, no BNS cases have...

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Detalles Bibliográficos
Autores principales: Zheng, Ruizhi, Zhao, Yaguang, Wu, Jiayu, Wang, Yuanmei, Liu, Jian-Ling, Zhou, Zhi-Ling, Zhou, Xiao-Tao, Chen, Dan-Na, Liao, Wei-Hua, Li, Jia-Da
Formato: Online Artículo Texto
Lenguaje:English
Publicado: D.A. Spandidos 2018
Materias:
Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6059678/
https://www.ncbi.nlm.nih.gov/pubmed/29749493
http://dx.doi.org/10.3892/mmr.2018.8955

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6059678/
https://www.ncbi.nlm.nih.gov/pubmed/29749493
http://dx.doi.org/10.3892/mmr.2018.8955

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