Chilblains as a diagnostic sign of aicardi-goutières syndrome.

Abdel-Salam, G M H; El-Kamah, G Y; Rice, G I; El-Darouti, M; Gornall, H; Szynkiewicz, M; Aymard, F; Zaki, M S; Abdel-Aleem, A K; Lebon, P; Crow, Y J

Abdel-Salam, G M H; El-Kamah, G Y; Rice, G I; El-Darouti, M; Gornall, H; Szynkiewicz, M; Aymard, F; Zaki, M S; Abdel-Aleem, A K; Lebon, P; Crow, Y J.

Affiliation

Abdel-Salam GM; Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt. ghada.abdelsalam@yahoo.com

Neuropediatrics ; 41(1): 18-23, 2010 Feb.

Article in En | MEDLINE | ID: mdl-20571986

Subject(s)

Basal Ganglia Diseases/complications; Basal Ganglia Diseases/diagnosis; Chilblains/etiology; Eye Diseases/complications; Lupus Erythematosus, Systemic/complications; Basal Ganglia Diseases/genetics; Calcinosis/genetics; Calcinosis/pathology; Chilblains/genetics; Child; Consanguinity; DNA Mutational Analysis; Eye Diseases/etiology; Eye Diseases/genetics; Female; Humans; Infant; Lupus Erythematosus, Systemic/genetics; Male; Monomeric GTP-Binding Proteins/genetics; SAM Domain and HD Domain-Containing Protein 1; Seizures/complications; Seizures/genetics; Skin/pathology; Tomography, X-Ray Computed/methods

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Basal Ganglia Diseases / Chilblains / Eye Diseases / Lupus Erythematosus, Systemic Type of study: Diagnostic_studies / Etiology_studies Limits: Child / Female / Humans / Infant / Male Language: En Journal: Neuropediatrics Year: 2010 Document type: Article Affiliation country: Egypt Country of publication: Germany

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