首页> Journal of medical genetics> Homozygosity for the c.428delG variant in <i>KIAA0586</i> in a healthy individual: implications for molecular testing in patients with Joubert syndrome.

Homozygosity for the c.428delG variant in <i>KIAA0586</i> in a healthy individual: implications for molecular testing in patients with Joubert syndrome.

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第一作者： Silke,Pauli

第一单位： Institute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany.

作者： Silke,Pauli ^[1] ; Janine,Altmüller ^[2] ; Simone,Schröder ^[3] ; Andreas,Ohlenbusch ^[4] ; Steffi,Dreha-Kulaczewski ^[4] ; Carsten,Bergmann ^[5] ; Peter,Nürnberg ^[2] ; Holger,Thiele ^[2] ; Yun,Li ^[1] ; Bernd,Wollnik ^[1] ; Knut,Brockmann ^[3]

作者单位： Institute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany. ^[1] Cologne Center for Genomics, Center for Molecular Medicine Cologne, University of Cologne, Cologne, Germany. ^[2] Interdisciplinary Pediatric Center for Children with Developmental Disabilities and Severe Chronic Disorders, University Medical Center Göttingen, Göttingen, Germany. ^[3] Division of Pediatric Neurology, Department of Pediatrics and Adolescent Medicine, University Medical Center Göttingen, Göttingen, Germany. ^[4] Center for Human Genetics, Bioscientia, Ingelheim, Germany. ^[5]

关键词 clinical genetics joubert syndrome kiaa0586 neurology