A recurrent 8 bp frameshifting indel in FOXF1 defines a novel mutation hotspot associated with alveolar capillary dysplasia with misalignment of pulmonary veins Article

Karolak, Justyna A, Bacolla, Albino, Liu, Qian et al. (2019). A recurrent 8 bp frameshifting indel in FOXF1 defines a novel mutation hotspot associated with alveolar capillary dysplasia with misalignment of pulmonary veins . AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 179(11), 2272-2276. 10.1002/ajmg.a.61338

International Collaboration

cited authors

  • Karolak, Justyna A; Bacolla, Albino; Liu, Qian; Lantz, Patrick E; Petty, John; Trapane, Pamela; Panzer, Karin; Totapally, Balagangadhar R; Niu, Zhiyv; Xiao, Rui; Xie, Nina G; Wu, Lucia R; Szafranski, Przemyslaw; Zhang, David Y; Stankiewicz, Pawel

sustainable development goals

authors

publication date

  • November 1, 2019

published in

keywords

  • CpG island
  • DELETIONS
  • DISEASE
  • FOXF1 haploinsufficiency
  • GENES
  • Genetics & Heredity
  • Life Sciences & Biomedicine
  • Science & Technology
  • VARIANTS
  • recurrent mutation
  • tandem repeats

Digital Object Identifier (DOI)

publisher

  • WILEY

start page

  • 2272

end page

  • 2276

volume

  • 179

issue

  • 11