Xcode Life

Condition: HEIMLER SYNDROME 2

rs267608216 in PEX6 gene and HEIMLER SYNDROME 2

PMID 19877282 2010 Spectrum of PEX6 mutations in Zellweger syndrome spectrum patients.

PMID 27302843 2016 Spectrum of PEX1 and PEX6 variants in Heimler syndrome.

PMID 19142205 2009 Rational diagnostic strategy for Zellweger syndrome spectrum patients.

PMID 25079577 2014 Late-onset Zellweger spectrum disorder caused by PEX6 mutations mimicking X-linked adrenoleukodystrophy.

PMID 26387595 2015 Heimler Syndrome Is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6.

PMID 19105186 2009 Identification of novel mutations and sequence variation in the Zellweger syndrome spectrum of peroxisome biogenesis disorders.

PMID 21031596 2011 Genetic classification and mutational spectrum of more than 600 patients with a Zellweger syndrome spectrum disorder.

PMID 11873320 2002 A PEX6-defective peroxisomal biogenesis disorder with severe phenotype in an infant, versus mild phenotype resembling Usher syndrome in the affected parents.