GATA6 mutations: Characterization of two novel patients and a comprehensive overview of the GATA6 genotypic and phenotypic spectrum. [electronic resource]
Producer: 20200803Description: 1836-1845 p. digitalISSN:- 1552-4833
- Adult
- Child
- GATA6 Transcription Factor -- genetics
- Gallbladder -- physiopathology
- Genetic Predisposition to Disease
- Genotype
- Heart -- diagnostic imaging
- Heart Defects, Congenital -- diagnostic imaging
- Hernias, Diaphragmatic, Congenital -- diagnostic imaging
- Heterozygote
- Humans
- Loss of Function Mutation -- genetics
- Male
- Mutation
- Pancreas -- diagnostic imaging
- Phenotype
- Truncus Arteriosus, Persistent -- diagnostic imaging
- Exome Sequencing
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't
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