First report of paternal uniparental disomy of chromosome 8 with SLC52A2 mutation in Brown-vialetto-van laere syndrome type 2 and an analysis of genotype-phenotype correlations

Purpose: This study reports the clinical and genetic features of Brown-Vialetto-Van Laere syndrome (BVVL) type 2 in a case of uniparental disomy of chromosome 8 in mainland China and analyzes the genotype-phenotype correlation through a review of the literature of BVVL type 2 cases. Methods: The cli...

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Detalles Bibliográficos
Autores principales: Zhao, Siyu, Che, Fengyu, Yang, Le, Zheng, Yanyan, Wang, Dong, Yang, Ying, Wang, Yan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9520306/
https://www.ncbi.nlm.nih.gov/pubmed/36186484
http://dx.doi.org/10.3389/fgene.2022.977914

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9520306/
https://www.ncbi.nlm.nih.gov/pubmed/36186484
http://dx.doi.org/10.3389/fgene.2022.977914

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