title: Genetic analysis of SOX2 and VSX2 genes in 27 Egyptian families with anophthalmia and microphthalmia.
authors.affiliation: a Medical Molecular Genetics Department , Human Genetics and Genome Research Division, National Research Centre , Cairo , Egypt.
authors.forename: Tamer H A
authors.initials: THA
authors.lastname: Ammar
authors.affiliation: a Medical Molecular Genetics Department , Human Genetics and Genome Research Division, National Research Centre , Cairo , Egypt.
authors.forename: Somaia
authors.initials: S
authors.lastname: Ismail
authors.affiliation: b Biochemistry Department , Faculty of Pharmacy, Al-Azhar University , Cairo , Egypt.
authors.forename: Ossama Abd Al-Motaal
authors.initials: OAA
authors.lastname: Mansour
authors.affiliation: b Biochemistry Department , Faculty of Pharmacy, Al-Azhar University , Cairo , Egypt.
authors.forename: Mostafa M
authors.initials: MM
authors.lastname: El-Shafey
authors.affiliation: b Biochemistry Department , Faculty of Pharmacy, Al-Azhar University , Cairo , Egypt.
authors.forename: Ahmed S
authors.initials: AS
authors.lastname: Doghish
authors.affiliation: c Ophthalmology Department , Cairo University , Cairo , Egypt.
authors.forename: Ahmad M
authors.initials: AM
authors.lastname: Kamal
authors.affiliation: d Clinical Genetics Department , Human Genetics and Genome Research Division, National Research Centre , Cairo , Egypt.
authors.forename: Ghada M H
authors.identifier: 0000-0003-2893-8802
authors.initials: GMH
authors.lastname: Abdel-Salam
mesh_terms: D000328:Adult; D000853:Anophthalmos / Q000000981:diagnostic imaging / Q000235:genetics*; D018389:Codon, Nonsense; D003241:Consanguinity; D004252:DNA Mutational Analysis; D004534:Egypt; D005260:Female; D005820:Genetic Testing; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging; D008297:Male; D008850:Microphthalmos / Q000000981:diagnostic imaging / Q000235:genetics*; D010375:Pedigree; D016133:Polymerase Chain Reaction; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D055748:SOXB1 Transcription Factors / Q000235:genetics*; D014157:Transcription Factors / Q000235:genetics*
chemical_list: D018389:Codon, Nonsense; D018398:Homeodomain Proteins; C527782:SOX2 protein, human; D055748:SOXB1 Transcription Factors; D014157:Transcription Factors; C490289:VSX2 protein, human