A novel homozygous sequence variant in GLI1 underlies first case of autosomal recessive pre-axial polydactyly

  • Clin Genet. 2019 Apr;95(4):540-541. doi: 10.1111/cge.13495.
Asmat Ullah  1  2 ,  Muhammad Umair  1  3 ,  Ayesha I Majeed  4 ,  Abdullah  1 ,  Abid Jan  1  5 ,  Wasim Ahmad  1
Affiliations
  • 1. Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan.
  • 2. Department of Molecular Biology, Shaheed Zulfiqar Ali Bhutto Medical University, Islamabad, Pakistan.
  • 3. Medical Genomics Research Department, King Abdullah International Medical Research Center (KAIMRC), Riyadh, Saudi Arabia.
  • 4. Department of Radiology, Pakistan Institute of Medical Sciences, Islamabad, Pakistan.
  • 5. Department of Biotechnology and Genetic Engineering, Kohat University of Science and Technology, Kohat, Pakistan.
PMID: 30620395 DOI: 10.1111/cge.13495