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Peroxisome biogenesis disorder, complementation group 7(CG7)

MedGen UID:
351115
•Concept ID:
C1864399
•
Disease or Syndrome
Synonyms: CG7; Peroxisome biogenesis disorder, complementation group B
 
OMIM®: 614870

Professional guidelines

PubMed

Phenotype-genotype relationships in PEX10-deficient peroxisome biogenesis disorder patients.
Warren DS, Wolfe BD, Gould SJ
Hum Mutat 2000;15(6):509-21. doi: 10.1002/1098-1004(200006)15:6<509::AID-HUMU3>3.0.CO;2-#. PMID: 10862081

Recent clinical studies

Prognosis

Phenotype-genotype relationships in PEX10-deficient peroxisome biogenesis disorder patients.
Warren DS, Wolfe BD, Gould SJ
Hum Mutat 2000;15(6):509-21. doi: 10.1002/1098-1004(200006)15:6<509::AID-HUMU3>3.0.CO;2-#. PMID: 10862081

Clinical prediction guides

Defective peroxisome membrane synthesis due to mutations in human PEX3 causes Zellweger syndrome, complementation group G.
Muntau AC, Mayerhofer PU, Paton BC, Kammerer S, Roscher AA
Am J Hum Genet 2000 Oct;67(4):967-75. Epub 2000 Aug 24 doi: 10.1086/303071. PMID: 10958759Free PMC Article
Phenotype-genotype relationships in PEX10-deficient peroxisome biogenesis disorder patients.
Warren DS, Wolfe BD, Gould SJ
Hum Mutat 2000;15(6):509-21. doi: 10.1002/1098-1004(200006)15:6<509::AID-HUMU3>3.0.CO;2-#. PMID: 10862081
Identification of PEX10, the gene defective in complementation group 7 of the peroxisome-biogenesis disorders.
Warren DS, Morrell JC, Moser HW, Valle D, Gould SJ
Am J Hum Genet 1998 Aug;63(2):347-59. doi: 10.1086/301963. PMID: 9683594Free PMC Article
Identification of three distinct peroxisomal protein import defects in patients with peroxisome biogenesis disorders.
Slawecki ML, Dodt G, Steinberg S, Moser AB, Moser HW, Gould SJ
J Cell Sci 1995 May;108 ( Pt 5):1817-29. doi: 10.1242/jcs.108.5.1817. PMID: 7544797

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