首页> Clinical genetics> Heterozygous CTNNB1 and TBX4 variants in a patient with abnormal lung growth, pulmonary hypertension, microcephaly, and spasticity.

Heterozygous CTNNB1 and TBX4 variants in a patient with abnormal lung growth, pulmonary hypertension, microcephaly, and spasticity.

导出 OA

翻译打印收藏纠错

第一作者： Justyna A,Karolak

第一单位： Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.;Department of Genetics and Pharmaceutical Microbiology, Poznan University of Medical Sciences, Poznan, Poland.

作者： Justyna A,Karolak ^[1] ; Przemyslaw,Szafranski ^[2] ; David,Kilner ^[3] ; Chirag,Patel ^[4] ; Bonnie,Scurry ^[5] ; Esther,Kinning ^[6] ; Kate,Chandler ^[7] ; Shalini N,Jhangiani ^[8] ; Zeynep H,Coban Akdemir ^[2] ; James R,Lupski ^[9] ; Edwina,Popek ^[10] ; Paweł,Stankiewicz ^[2]

作者单位： Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.;Department of Genetics and Pharmaceutical Microbiology, Poznan University of Medical Sciences, Poznan, Poland. ^[1] Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas. ^[2] Department of Respiratory and Sleep Medicine, Queensland Children's Hospital, South Brisbane, Queensland, Australia.;The University of Queensland, Brisbane, Queensland, Australia. ^[3] Genetic Health Queensland, Royal Brisbane and Women's Hospital, Brisbane, Queensland, Australia. ^[4] Pathology Queensland, Royal Brisbane and Women's Hospital and Lady Cilento Children's Hospital, Brisbane, Queensland, Australia. ^[5] West of Scotland Regional Genetics Service, Queen Elizabeth Hospital, Glasgow, UK. ^[6] Manchester Centre for Genomic Medicine, Saint Mary's Hospital, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Science Centre, Manchester, UK. ^[7] Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas. ^[8] Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.;Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas.;Texas Children's Hospital, Houston, Texas.;Department of Pediatrics, Baylor College of Medicine, Houston, Texas. ^[9] Department of Pathology and Immunology, Baylor College of Medicine, Houston, Texas. ^[10]

关键词 T-box transcription factor 4 beta-catenin epistatic interactions neonatal lung disease