Magnetic resonance imaging, magnetic resonance spectroscopy, and facial dysmorphism in a case of Lowe syndrome with novel OCRL1 gene mutation.

doi:10.1177/0883073808321047

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Article

Magnetic resonance imaging, magnetic resonance spectroscopy, and facial dysmorphism in a case of Lowe syndrome with novel OCRL1 gene mutation.

Journal of child neurology - 1 Jan 2009

Yuksel Adnan, Karaca Ender, Albayram M Sait

Abstract excerpt

Lowe syndrome is a multisystem disorder characterized by anomalies of the eye, the nervous system, and the kidney. It is an uncommon, X-linked disease. Bilateral cataract and severe hypotonia are present at birth. Psychomotor retardation is evident in childhood, while renal complications arise in adolescence. The mutation of the gene OCRL1 localized at Xq26.1 is responsible for the disease. The authors report on...

Topics

Asparagine
Brain
Child
DNA Mutational Analysis
Exons
Face
Humans
Lysine
Magnetic Resonance Imaging
Magnetic Resonance Spectroscopy
Male
Mutation
Oculocerebrorenal Syndrome
Phosphoric Monoester Hydrolases

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Open in PubMed

Identifiers

PMID: 19168822
DOI: 10.1177/0883073808321047

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