A Novel Homozygous Truncating Mutation in LAMB2 Gene in a Chinese Uyghur Patient With Severe Phenotype Pierson Syndrome

Objective: Pierson syndrome (OMIM 609049) is a rare autosomal recessive disorder characterized by congenital nephrotic syndrome and complex ocular abnormalities. Severe renal symptoms had be associated with truncating mutations. Few Chinese patients from diverse ethnic background had been evaluated...

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Detalles Bibliográficos
Autores principales: Zhu, Hong Tao, Maimaiti, Mireguli, Cao, Chen, Luo, Yan Fei, Julaiti, Delihuma, Liang, Lin, Abudureheman, Aizezi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2019
Materias:
Medicine
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6369156/
https://www.ncbi.nlm.nih.gov/pubmed/30778388
http://dx.doi.org/10.3389/fmed.2019.00012

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6369156/
https://www.ncbi.nlm.nih.gov/pubmed/30778388
http://dx.doi.org/10.3389/fmed.2019.00012

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