title: Novel compound heterozygous frameshift mutations of C2orf37 in a familial Indian case of Woodhouse-Sakati syndrome.
authors.affiliation: Department of Internal Medicine, Department of Radiodiagnosis, and Medical Biotechnology Central Research Lab, MES Medical College, Perinthalmanna 679 338, India.drcamans@gmail.com.
authors.forename: Mansoor C
authors.initials: MC
authors.lastname: Abdulla
authors.forename: Anas M
authors.initials: AM
authors.lastname: Alazami
authors.forename: Jemshad
authors.initials: J
authors.lastname: Alungal
authors.forename: Jassim M
authors.initials: JM
authors.lastname: Koya
authors.forename: Mohthash
authors.initials: M
authors.lastname: Musambil
mesh_terms: D000328:Adult; D000505:Alopecia / Q000235:genetics*; D001145:Arrhythmias, Cardiac / Q000235:genetics*; D001480:Basal Ganglia Diseases / Q000235:genetics*; D001483:Base Sequence; D002648:Child; D004252:DNA Mutational Analysis; D003920:Diabetes Mellitus / Q000235:genetics*; D005190:Family; D005260:Female; D016368:Frameshift Mutation / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D007006:Hypogonadism / Q000235:genetics*; D007194:India; D008607:Intellectual Disability / Q000235:genetics*; D008279:Magnetic Resonance Imaging; D008969:Molecular Sequence Data; D009687:Nuclear Proteins / Q000235:genetics*; D043743:Ubiquitin-Protein Ligase Complexes / Q000235:genetics*
chemical_list: C556016:DCAF17 protein, human; D009687:Nuclear Proteins; D043743:Ubiquitin-Protein Ligase Complexes