Case report: two novel VPS13B mutations in a Chinese family with Cohen syndrome and hyperlinear palms

BACKGROUND: Cohen syndrome (CS) is an uncommon developmental disease with evident clinical heterogeneity. VPS13B is the only gene responsible for CS. Only few sporadic cases of CS have been reported in China. CASE PRESENTATION: A Chinese family with two offspring–patients affected by developmental d...

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Detalles Bibliográficos
Autores principales: Zhao, Sha, Luo, Zhenqing, Xiao, Zhenghui, Li, Liping, Zhao, Rui, Yang, Yongjia, Zhong, Yan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6873578/
https://www.ncbi.nlm.nih.gov/pubmed/31752730
http://dx.doi.org/10.1186/s12881-019-0920-x

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6873578/
https://www.ncbi.nlm.nih.gov/pubmed/31752730
http://dx.doi.org/10.1186/s12881-019-0920-x

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