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

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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Bibliographic Details
Main Authors: Hong Tao Zhu, Mireguli Maimaiti, Chen Cao, Yan Fei Luo, Delihuma Julaiti, Lin Liang, Aizezi Abudureheman
Format: Article
Language:English
Published: Frontiers Media S.A. 2019-02-01
Series:Frontiers in Medicine
Subjects:
pierson syndrome
severe type
LAMB2 gene
microcoria
homozygous mutation
Online Access:https://www.frontiersin.org/article/10.3389/fmed.2019.00012/full

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https://www.frontiersin.org/article/10.3389/fmed.2019.00012/full

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