Mutation of the gene encoding the enamel-specific protein, enamelin, causes autosomal-dominant amelogenesis imperfecta

By Harley K.  

Human Molecular Genetics, Vol. 10, Iss. 16, 2001-08 ,pp. : 1673-1677

Oxford University Press

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A new locus for autosomal dominant amelogenesis imperfecta on chromosome 8q24.3

By Mendoza Gustavo   Pemberton Trevor   Lee Kwanghyuk   Scarel-Caminaga Raquel   Mehrian-Shai Ruty   Gonzalez-Quevedo Catalina   Ninis Vasiliki   Hartiala Jaana   Allayee Hooman   Snead Malcolm   Leal Suzanne   Line Sergio   Patel Pragna  

Human Genetics, Vol. 120, Iss. 5, 2007-01 ,pp. : 653-662

Springer Publishing Company

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Enamelin ( Enam ) is essential for amelogenesis: ENU-induced mouse mutants as models for different clinical subtypes of human amelogenesis imperfecta (AI)

By Masuya Hiroshi  

Human Molecular Genetics, Vol. 14, Iss. 5, 2005-03 ,pp. : 575-583

Oxford University Press

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Autosomal Dominant Cerulean Cataract Is Associated with a Chain Termination Mutation in the Human β-Crystallin Gene CRYBB2

By Litt Michael  

Human Molecular Genetics, Vol. 6, Iss. 5, 1997-01 ,pp. : 665-668

Oxford University Press

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Nonsense mutations in FZD2 cause autosomal‐dominant omodysplasia: Robinow syndrome‐like phenotypes

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American Journal Of Medical Genetics Part A, Vol. 176, Iss. 3, 2018-03 ,pp. : 739-742

John Wiley & Sons Inc

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