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A common PEX1 frameshift mutation in patients with disorders of peroxisome biogenesis correlates with the severe Zellweger syndrome phenotype

โœ Scribed by M.A. Maxwell; P.V. Nelson; S.J. Chin; B.C. Paton; W.F. Carey; D.I. Crane

Publisher
Springer
Year
1999
Tongue
English
Weight
236 KB
Volume
105
Category
Article
ISSN
0340-6717

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A mutation in PEX19 causes a severe clin
A mutation in PEX19 causes a severe clinical phenotype in a patient with peroxisomal biogenesis disorder
โœ Sarar Mohamed; Ebtisam El-Meleagy; Abdelhaleem Nasr; Merel S. Ebberink; Ronald J ๐Ÿ“‚ Article ๐Ÿ“… 2010 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 93 KB ๐Ÿ‘ 2 views

## Abstract Peroxisomal biogenesis disorders (PBD) are groups of inherited neurometabolic disorders caused by defects in PEX genes. We report on a female infant, born to a consanguineous parents (first degree cousins), who presented with inactivity, poor sucking, and hypotonia early in the neonatal