Variants in GATA4 are a rare cause of familial and sporadic congenital diaphragmatic hernia

Congenital diaphragmatic hernia (CDH) is characterized by incomplete formation of the diaphragm occurring as either an isolated defect or in association with other anomalies. Genetic factors including aneuploidies and copy number variants are important in the pathogenesis of many cases of CDH, but f...

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Vydáno v:	Human genetics Ročník 132; číslo 3; s. 285 - 292
Hlavní autoři:	Yu, Lan, Wynn, Julia, Cheung, Yee Him, Shen, Yufeng, Mychaliska, George B., Crombleholme, Timothy M., Azarow, Kenneth S., Lim, Foong Yen, Chung, Dai H., Potoka, Douglas, Warner, Brad W., Bucher, Brian, Stolar, Charles, Aspelund, Gudrun, Arkovitz, Marc S., Chung, Wendy K.
Médium:	Journal Article
Jazyk:	angličtina
Vydáno:	Berlin/Heidelberg Springer-Verlag 01.03.2013 Springer Springer Nature B.V
Témata:	Abdomen Aneuploidy Biomedical and Life Sciences Biomedicine Chest copy number Data processing Diaphragm Diaphragm (Anatomy) DNA Copy Number Variations - genetics Exome - genetics GATA4 Transcription Factor - genetics Gene Function Genetic aspects Genetic disorders Genetic factors Genetic Variation Genome-Wide Association Study Genomes Genotype Hernia Hernia, Diaphragmatic - genetics Hernias Hernias, Diaphragmatic, Congenital Heterozygote Human Genetics Humans Infant, Newborn Magnetic resonance imaging Male Medicine Metabolic Diseases Molecular Medicine Mutation, Missense Original Investigation Pathogenesis Pediatrics Polymorphism, Single Nucleotide Sequence Analysis, DNA Surgery New York United States > US Congenital Diaphragmatic Hernia Human Gene Mutation Database Gene Prioritization Whole Exome Sequencing
ISSN:	0340-6717, 1432-1203, 1432-1203
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