Erratum to: A de novo whole gene deletion of XIAP detected by exome sequencing analysis in very early onset inflammatory bowel disease: a case report
نویسندگان
چکیده
Author details Division of Gastroenterology, Hepatology, and Nutrition, The Children’s Hospital of Philadelphia, Philadelphia, PA, USA. Department of Biomedical Health Informatics, The Children’s Hospital of Philadelphia, Philadelphia, PA, USA. Department of Pathology and Laboratory Medicine, The Children’s Hospital of Philadelphia, Philadelphia, PA, USA. Division of Immunology and Allergy, The Children’s Hospital of Philadelphia, Philadelphia, PA, USA. Nucleic Acid/PCR Core, The Children’s Hospital of Philadelphia, Philadelphia, PA, USA. Division of Human Genetics, The Children’s Hospital of Philadelphia, Department of Pediatrics, Department of Biostatistics and Epidemiology, Perelman School of Medicine, University of Pennsylvania; Department of Molecular Medicine, University Sapienza, Rome, Italy. 7NW, Division of Pediatric Gastroenterology, The Children’s Hospital of Philadelphia, 3400 Civic Center Blvd, Philadelphia 19104 PA, USA. Department of Pediatrics, University of Pennsylvania, Philadelphia, USA. Department of Molecular Medicine, University Sapienza, Rome, Italy. Department of Biostatistics and Epidemiology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, USA.
منابع مشابه
A de novo whole gene deletion of XIAP detected by exome sequencing analysis in very early onset inflammatory bowel disease: a case report
BACKGROUND Children with very early-onset inflammatory bowel disease (VEO-IBD), those diagnosed at less than 5 years of age, are a unique population. A subset of these patients present with a distinct phenotype and more severe disease than older children and adults. Host genetics is thought to play a more prominent role in this young population, and monogenic defects in genes related to primary...
متن کاملA New Nonsense Mutation in CDKL5 Gene in a Male Patient with Early Onset Refractory Epilepsy: a Case Report
Background The X-linked cyclin-dependent kinase like 5 (CDKL5/STK9) gene has been shown to be responsible for a severe encephalopathy condition characterized by early onset of epilepsy and severe developmental delay. CDKL5 mutations have been shown to be more frequent among female patients. Results Here we report a 6- month male patient, second child of a healthy non consanguineous in the Irani...
متن کاملSyndromic Intellectual Disability Caused by a Novel Truncating Variant in AHDC1: A Case Report
Mutations in the AHDC1 gene are associated with the Xia-Gibbs syndrome (XGS), a sporadic genetic disorder characterised by developmental delay, intellectual disability, hypotonia, obstructive sleep apnoea, dysmorphic facial features, and cerebral malformations with plagiocephaly. Here we report the case of a 13-year-old Colombian female patient with a history of developmental delay, speech dela...
متن کاملMicroduplication of Xp22.31 and MECP2 Pathogenic Variant in a Girl with Rett Syndrome: A Case Report
Rett syndrome (RS) is a neurodevelopmental infantile disease characterized by an early normal psychomotor development followed by a regression in the acquisition of normal developmental stages. In the majority of cases, it leads to a sporadic mutation in the MECP2 gene, which is located on the X chromosome. However, this syndrome has also been associated with microdeletions, gene translocations...
متن کاملEvaluation of Genome in Early Familial Coronary Artery Disease: A Case Report
Background and Objectives: Coronary artery diseases (CAD) are the most common cause of death in Iran and worldwide. Myocardial infarction (MI) is a complex multifactorial and the most severe type of CAD. Early onset MI in first degree relatives could be considered as an independent risk factor for CAD. This study was performed to investigate the genetic cause of early onset familial CAD. Cas...
متن کامل