title: Novel homozygous sequence variants in the CDH3 gene encoding P-cadherin underlying hypotrichosis with juvenile macular dystrophy in consanguineous families.
authors.affiliation: Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan.
authors.forename: Farooq
authors.initials: F
authors.lastname: Ahmad
authors.affiliation: Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan.
authors.forename: Raja Hussain
authors.initials: RH
authors.lastname: Ali
authors.affiliation: Chandka Medical College, Larkana, Sindh 77150, Pakistan.
authors.forename: Dost
authors.initials: D
authors.lastname: Muhammad
authors.affiliation: Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan.
authors.forename: Abdul
authors.initials: A
authors.lastname: Nasir
authors.affiliation: Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan.
authors.forename: Muhammad
authors.initials: M
authors.lastname: Umair
authors.affiliation: Department of Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh 11211, Saudi Arabia.
authors.forename: Salma M
authors.initials: SM
authors.lastname: Wakil
authors.affiliation: Department of Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh 11211, Saudi Arabia.
authors.forename: Khushnooda
authors.initials: K
authors.lastname: Ramzan
authors.affiliation: Center for Genetics and Inherited Diseases, Taibah University Al Madinah Al Munawarah, Saudi Arabia.
authors.forename: Sulman
authors.initials: S
authors.lastname: Basit
authors.affiliation: Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan.
authors.forename: Wasim
authors.initials: W
authors.lastname: Ahmad
mesh_terms: D000293:Adolescent; D000328:Adult; D001483:Base Sequence; D015820:Cadherins / Q000737:chemistry / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D018389:Codon, Nonsense; D003241:Consanguinity; D005260:Female; D006720:Homozygote; D006801:Humans; D007039:Hypotrichosis / Q000150:complications / Q000151:congenital* / Q000235:genetics; D008268:Macular Degeneration / Q000150:complications / Q000235:genetics*; D008297:Male; D008968:Molecular Conformation; D010375:Pedigree; D017384:Sequence Deletion; D014786:Vision Disorders / Q000209:etiology
chemical_list: C512197:CDH3 protein, human; D015820:Cadherins; D018389:Codon, Nonsense