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Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 06/2013, Volume 110, Issue 24, p. 9856
  Familial exudative vitreoretinopathy (FEVR) is a genetically heterogeneous disorder characterized by abnormal vascularization of the peripheral retina, which... 
Retina | Zebrafish | Mutation | Kinases | Cells | Deoxyribonucleic acid--DNA
Journal Article
American Journal of Human Genetics, ISSN 0002-9297, 09/2012, Volume 91, Issue 3, p. 565
  Autozygosity mapping and clonal sequencing of an Omani family identified mutations in the uncharacterized gene, C4orf26, as a cause of recessive... 
Proteins | Peptides | Teeth | Mutation | Gene expression | Medical disorders | Cells
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 10/2015, Volume 97, Issue 4, pp. 535 - 545
Journal Article
Molecular Genetics & Genomic Medicine, ISSN 2324-9269, 11/2015, Volume 3, Issue 6, pp. 543 - 549
Biallelic FAM 20A mutations cause two conditions where Amelogenesis Imperfecta ( AI ) is the presenting feature: Amelogenesis Imperfecta and Gingival... 
CNV | FAM | 20A | enamel renal syndrome | Amelogenesis imperfecta | seq | FAM20A | CNVseq | GENETICS & HEREDITY
Journal Article
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 02/2010, Volume 86, Issue 2, pp. 248 - 253
Familial exudative vitreoretinopathy (FEVR) is an inherited blinding disorder of the retinal vascular system. Although mutations in three genes ( , , and ) are... 
VASCULARIZATION | ANGIOGENESIS | VASCULATURE | NORRIE-DISEASE GENE | FZD4 MUTATIONS | GENETICS & HEREDITY | LRP5 | FRIZZLED-4 GENE | DOMAINS | LOCUS | TETRASPANIN PROTEINS | Heterozygosis | Research | Gene mutations | Genetic screening | Heterozygosity
Journal Article
American Journal of Human Genetics, ISSN 0002-9297, 09/2011, Volume 89, Issue 3, p. 464
Anterior segment dysgenesis describes a group of heterogeneous developmental disorders that affect the anterior chamber of the eye and are associated with an... 
Proteins | Genotype & phenotype | Enzymes | Eye diseases | Mutation
Journal Article
Molecular Genetics & Genomic Medicine, 11/2015, Volume 3, Issue 6, pp. 543 - 549
Biallelic FAM20A mutations cause two conditions where Amelogenesis Imperfecta (AI) is the presenting feature: Amelogenesis Imperfecta and Gingival Fibromatosis... 
Phenotypes | Phosphorylation | RNA-directed DNA polymerase | Transcription | Exons | Heredity | Genomes | Grants | Kinases | Gene sequencing | Proteins | Genotype & phenotype | Screening | Dental enamel | Alleles | Conflicts of interest | Gingival fibromatosis | Genetic testing | Mutation | Amelogenesis imperfecta | Deoxyribonucleic acid--DNA
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 09/2012, Volume 91, Issue 3, pp. 565 - 571
Autozygosity mapping and clonal sequencing of an Omani family identified mutations in the uncharacterized gene, as a cause of recessive hypomineralized...