Human Genome Epidemiology Literature Finder
Rare Diseases
Records 1 - 3 (of 3 Records) |
Query Trace: Zellweger Syndrome[original query] |
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A deleterious mutation in the PEX2 gene causes Zellweger syndrome in individuals of Ashkenazi Jewish descent. Clinical genetics 2014 Apr 85 (4): 343-6. Fedick A, Jalas C, Treff N |
Spectrum of PEX1 and PEX6 variants in Heimler syndrome. European journal of human genetics : EJHG 2016 Jun . Smith Claire E L, Poulter James A, Levin Alex V, Capasso Jenina E, Price Susan, Ben-Yosef Tamar, Sharony Reuven, Newman William G, Shore Roger C, Brookes Steven J, Mighell Alan J, Inglehearn Chris |
PEX26 gene genotype-phenotype correlation in neonates with Zellweger syndrome. Translational pediatrics 2021 8 10 (7): 1825-1833. He Yue, Lin Sam Bill, Li Wen-Xuan, Yang Lin, Zhang Rong, Chen Chao, Yuan L |
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