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Peroxisome biogenesis disorder, complementation group 1(CGE)

MedGen UID:
355555
•Concept ID:
C1865803
•
Disease or Syndrome
Synonyms: CGE; Peroxisome biogenesis disorder, complementation group E
 
OMIM®: 214100

Recent clinical studies

Etiology

Novel PEX11B Mutations Extend the Peroxisome Biogenesis Disorder 14B Phenotypic Spectrum and Underscore Congenital Cataract as an Early Feature.
Taylor RL, Handley MT, Waller S, Campbell C, Urquhart J, Meynert AM, Ellingford JM, Donnelly D, Wilcox G, Lloyd IC, Mundy H, FitzPatrick DR, Deshpande C, Clayton-Smith J, Black GC
Invest Ophthalmol Vis Sci 2017 Jan 1;58(1):594-603. doi: 10.1167/iovs.16-21026. PMID: 28129423Free PMC Article

Diagnosis

Novel PEX11B Mutations Extend the Peroxisome Biogenesis Disorder 14B Phenotypic Spectrum and Underscore Congenital Cataract as an Early Feature.
Taylor RL, Handley MT, Waller S, Campbell C, Urquhart J, Meynert AM, Ellingford JM, Donnelly D, Wilcox G, Lloyd IC, Mundy H, FitzPatrick DR, Deshpande C, Clayton-Smith J, Black GC
Invest Ophthalmol Vis Sci 2017 Jan 1;58(1):594-603. doi: 10.1167/iovs.16-21026. PMID: 28129423Free PMC Article

Prognosis

Novel PEX11B Mutations Extend the Peroxisome Biogenesis Disorder 14B Phenotypic Spectrum and Underscore Congenital Cataract as an Early Feature.
Taylor RL, Handley MT, Waller S, Campbell C, Urquhart J, Meynert AM, Ellingford JM, Donnelly D, Wilcox G, Lloyd IC, Mundy H, FitzPatrick DR, Deshpande C, Clayton-Smith J, Black GC
Invest Ophthalmol Vis Sci 2017 Jan 1;58(1):594-603. doi: 10.1167/iovs.16-21026. PMID: 28129423Free PMC Article

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