Work

A Turkish Adulthood Joubert Syndrome And Review Of The Literature

Year: 2010

Type: article

Abstract: Joubert Syndrome (JS) in adult population is extremely rare.Here, we describe the first adult case seen in the Republic of Turkey.Our patient, a 19-year-old male, was diagnosed primarily by magnetic resonance imaging (MRI) finding of the typical "molar tooth sign", in addition to JS clinical features such as mental retardation, hypotonia, dysarthria, nystagmus and ataxia.Detailed images of high resolution MRI, a review of the literature and a brief discussion are reported.

Source: Bioline International (Bioline International)

Authors: Mehmet Noyan Zenger, Serdar Kabataş, Ali Fuat Baykız, Yang D. Teng

Language: English

Topic: Genetic and Kidney Cyst Diseases

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: green

OpenAlex ID: W2498262646

FWCI:

Cites: 12

Cited by: 1

Related to: 10