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

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.