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A Novel CFC1 Mutation in a Family With Heterotaxy and Biliary Atresia Splenic Malformation Syndromes.
J Pediatr Gastroenterol Nutr
January 2020
Pediatric Hepatology and Liver Transplantation Unit, National Reference Centre for Biliary Atresia.
Genetic mutation analysis in Japanese patients with non-syndromic congenital heart disease.
J Hum Genet
February 2016
Department of Bioscience and Genetics, National Cerebral and Cardiovascular Center Research Institute, Suita, Japan.
Congenital heart disease (CHD) is the most common birth defect occurring in humans and some transcriptional factors have been identified as causative. However, additional mutation analysis of these genes is necessary to develop effective diagnostic and medical treatment methods. We conducted sequence analysis of the coding regions of NKX2.
View Article and Find Full Text PDFThe contribution of de novo and rare inherited copy number changes to congenital heart disease in an unselected sample of children with conotruncal defects or hypoplastic left heart disease.
Hum Genet
January 2014
Departments of Pediatrics and Genetics and Development, Columbia University, New York, NY, USA,
Congenital heart disease (CHD) is the most common congenital malformation, with evidence of a strong genetic component. We analyzed data from 223 consecutively ascertained families, each consisting of at least one child affected by a conotruncal defect (CNT) or hypoplastic left heart disease (HLHS) and both parents. The NimbleGen HD2-2.
View Article and Find Full Text PDFMutations in ZIC3 and ACVR2B are a common cause of heterotaxy and associated cardiovascular anomalies.
Cardiol Young
April 2012
Department of Pediatrics, Columbia University Medical Center, New York, United States of America.
Background: Heterotaxy syndrome is caused by left-right asymmetry disturbances and is associated with abnormal lateralisation of the abdominal and thoracic organs. The heart is frequently involved and the severity of the abnormality usually determines the outcome.
Methods: We performed a direct sequence analysis of the coding sequence of genes including Zinc Finger Protein of the Cerebellum 3, Left-Right Determination Factor 2, Activin A Receptor Type IIB, and Cryptic in 47 patients with laterality defects and congenital cardiac disease.
Background: Congenital heart disease (CHD) is one of the most common human birth defects. Over the last few decades, a variety of CHD-causing gene mutations have been identified. The aim of this study was to identify potential pathological mutations in the Cryptic (CFC1) gene in 500 Chinese children with CHD and to gain insight into the etiology of CHD.
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