Association of rare non-coding SNVs in the lung-specific FOXF1 enhancer with a mitigation of the lethal ACDMPV phenotype.
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| Title: | Association of rare non-coding SNVs in the lung-specific FOXF1 enhancer with a mitigation of the lethal ACDMPV phenotype. |
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| Authors: | Szafranski P; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Liu Q; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Karolak JA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Department of Genetics and Pharmaceutical Microbiology, Poznan University of Medical Sciences, Poznan, Poland., Song X; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., de Leeuw N; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Faas B; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Gerychova R; Department of Obstetrics and Gynecology, Masaryk University and University Hospital Brno, Brno, Czech Republic., Janku P; Department of Obstetrics and Gynecology, Masaryk University and University Hospital Brno, Brno, Czech Republic.; Department of Nursing and Midwifery, Masaryk University, Brno, Czech Republic., Jezova M; Department of Pathology, Masaryk University and University Hospital Brno, Brno, Czech Republic., Valaskova I; Department of Medical Genetics, Masaryk University and University Hospital Brno, Brno, Czech Republic., Gibbs KA; Children's Hospital of Philadelphia, Philadelphia, PA, USA., Surrey LF; Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Department of Pathology and Laboratory Medicine, Perelman School of Medicine, Philadelphia, PA, USA., Poisson V; CHU Sainte-Justine, Montreal, Québec, Canada.; Department of Pediatrics, Université de Montréal, Montreal, Québec, Canada., Bérubé D; CHU Sainte-Justine, Montreal, Québec, Canada.; Department of Pediatrics, Université de Montréal, Montreal, Québec, Canada., Oligny LL; CHU Sainte-Justine, Montreal, Québec, Canada.; Department of Pathology, Université de Montréal, Montreal, Québec, Canada., Michaud JL; CHU Sainte-Justine, Montreal, Québec, Canada.; Department of Pediatrics, Université de Montréal, Montreal, Québec, Canada., Popek E; Department of Pathology and Immunology, Baylor College of Medicine, Houston, TX, USA., Stankiewicz P; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA. pawels@bcm.edu. |
| Source: | Human genetics [Hum Genet] 2019 Dec; Vol. 138 (11-12), pp. 1301-1311. Date of Electronic Publication: 2019 Nov 04. |
| Publication Type: | Case Reports; Journal Article |
| Journal Info: | Publisher: Springer Verlag Country of Publication: Germany NLM ID: 7613873 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-1203 (Electronic) Linking ISSN: 03406717 NLM ISO Abbreviation: Hum Genet Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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| ISSN: | 1432-1203 |
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| DOI: | 10.1007/s00439-019-02073-x |
