Three children with triple A syndrome due to a mutation (R478X) in the AAAS gene.

Yuksel, Bilgin; Braun, Regina; Topaloglu, A Kemal; Mungan, Neslihan O; Ozer, Guler; Huebner, Angela

Yuksel, Bilgin; Braun, Regina; Topaloglu, A Kemal; Mungan, Neslihan O; Ozer, Guler; Huebner, Angela.

Affiliation

Yuksel B; Division of Pediatric Endocrinology and Metabolism, Cukurova University, Faculty of Medicine, Adana, Turkey. byuksel@cu.edu.tr

Horm Res ; 61(1): 3-6, 2004.

Article in En | MEDLINE | ID: mdl-14646395

Subject(s)

Adrenal Insufficiency/genetics; Esophageal Achalasia/genetics; Lacrimal Apparatus Diseases/genetics; Mutation, Missense; Proteins/genetics; Child; Child, Preschool; Chromosomes, Human, Pair 12/genetics; Exons; Female; Genes, Recessive/genetics; Humans; Male; Nerve Tissue Proteins; Nuclear Pore Complex Proteins; Syndrome

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Collection: 01-internacional Database: MEDLINE Main subject: Proteins / Esophageal Achalasia / Adrenal Insufficiency / Mutation, Missense / Lacrimal Apparatus Diseases Type of study: Prognostic_studies Limits: Child / Child, preschool / Female / Humans / Male Language: En Journal: Horm Res Year: 2004 Document type: Article Affiliation country: Turkey Country of publication: Switzerland

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