Skip to Main Content

Paper Details

Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway.
Am J Hum Genet
66
2019
17q23, FGF, FGF10, FGFR2, Lethal Lung Developmental Disorders, TBX, TBX4, congenital alveolar dysplasia, developmental disorders of the lung, human, interstitial neonatal lung disorders, lung hypoplasia, lung hypoplasias, lung-specific enhancer region, non, non-coding SNVs, overlapping deletions, pulmonary hypoplasias, structural lung anomalies
Author NameAffiliation
Tomasz GambinInstitute of Mother and Child, Poland Institute of Computer Science, Warsaw University of Technology
Kathleen A LeppigGenetic Services Kaiser Permanente of Washington
Cornelius F BoerkoelUniversity of British Columbia
Cornelius F BoerkoelUniversity of British Columbia
Claire BeneteauCHU de Nantes, France Inserm, CNRS, l'institut du thorax
Fernando ScagliaBaylor College of Medicine, USA Texas Children's Hospital, Prince of Wales Hospital
John A PhillipsVanderbilt University Medical Center
John A PhillipsVanderbilt University Medical Center
Jean P PfotenhauerVanderbilt University Medical Center
Shalini N JhangianiBaylor College of Medicine
Wendy K ChungColumbia University
Wendy K ChungColumbia University
Zeynep Coban AkdemirBaylor College of Medicine
James R LupskiBaylor College of Medicine, USA Texas Children's Hospital
James R LupskiBaylor College of Medicine, USA Texas Children's Hospital
  • 1 - 15

Datasets

Release 1.2