title: Whole-exome sequencing identified a novel frameshift mutation in SDR9C7 underlying autosomal recessive congenital ichthyosis in a Pakistani family.
authors.affiliation: Medical Genetics Research Laboratory, Department of Biotechnology, Quaid-I-Azam University, Islamabad, Pakistan.
authors.forename: N
authors.initials: N
authors.lastname: Karim
authors.affiliation: Medical Genetics Research Laboratory, Department of Biotechnology, Quaid-I-Azam University, Islamabad, Pakistan.
authors.forename: G
authors.initials: G
authors.lastname: Murtaza
authors.affiliation: Medical Genetics Research Laboratory, Department of Biotechnology, Quaid-I-Azam University, Islamabad, Pakistan.
authors.forename: M
authors.identifier: 0000-0002-3894-3085
authors.initials: M
authors.lastname: Naeem
mesh_terms: D003241:Consanguinity; D005260:Female; D016368:Frameshift Mutation / Q000235:genetics*; D006801:Humans; D017490:Ichthyosis, Lamellar / Q000235:genetics*; D008297:Male; D010088:Oxidoreductases / Q000235:genetics*; D010375:Pedigree; D000073359:Exome Sequencing
chemical_list: D010088:Oxidoreductases; C471160:SDR9C7 protein, human