Condition: HEIMLER SYNDROME 1


rs61750427 in GATAD1;PEX1 gene and HEIMLER SYNDROME 1 PMID 27302843 2016 Spectrum of PEX1 and PEX6 variants in Heimler syndrome.

PMID 16088892 2005 Novel PEX1 coding mutations and 5' UTR regulatory polymorphisms.

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

PMID 25525159 2015 RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.

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

PMID 12402331 2002 Novel PEX1 mutations and genotype-phenotype correlations in Australasian peroxisome biogenesis disorder patients.

rs370483961 in PEX1 gene and HEIMLER SYNDROME 1 PMID 26387595 2015 Heimler Syndrome Is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6.

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

PMID 28468868 2017 Diagnosing childhood-onset inborn errors of metabolism by next-generation sequencing.

PMID 12402331 2002 Novel PEX1 mutations and genotype-phenotype correlations in Australasian peroxisome biogenesis disorder patients.

PMID 26643206 2016 Low bone mineral density is a common feature of Zellweger spectrum disorders.

PMID 20952722 2010 Germinal matrix hemorrhage in Zellweger syndrome.

PMID 26287655 2016 Zellweger spectrum disorders: clinical manifestations in patients surviving into adulthood.

PMID 10447258 1999 Identification of a common PEX1 mutation in Zellweger syndrome.

PMID 27872819 2016 Diagnosis of a mild peroxisomal phenotype with next-generation sequencing.

PMID 27882258 2016 Dysmorphic Facial Features and Other Clinical Characteristics in Two Patients with PEX1 Gene Mutations.

PMID 9398847 1997 Mutations in PEX1 are the most common cause of peroxisome biogenesis disorders.

PMID 25412400 2015 Panel-based genetic diagnostic testing for inherited eye diseases is highly accurate and reproducible, and more sensitive for variant detection, than exome sequencing.

PMID 27090541 2016 Zellweger syndrome with severe malnutrition, immunocompromised state and opportunistic infections.

PMID 26219880 2016 Friedreich Ataxia in Classical Galactosaemia.