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Keywords: FAM83H
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Journal Articles

Molecular Characterization of Amelogenesis Imperfecta in Chinese Patients

Subject Area:
Further Areas , Pathology and Cell Biology
Y.L. Song, C.N. Wang, C.Z. Zhang, K. Yang, Z. Bian
Journal: Cells Tissues Organs
Cells Tissues Organs (2012) 196 (3): 271–279.
https://doi.org/10.1159/000334210
Published Online: 13 March 2012
...Y.L. Song; C.N. Wang; C.Z. Zhang; K. Yang; Z. Bian Background: Mutations in 6 genes have been identified as being part of the etiology of amelogenesis imperfecta (AI) with various phenotypes in an isolated condition. Among them the FAM83H gene is the major contributor to the etiology of AI...
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Journal Articles

Ultrastructural Analyses of Deciduous Teeth Affected by Hypocalcified Amelogenesis Imperfecta from a Family with a Novel Y458X FAM83H Nonsense Mutation

Subject Area:
Further Areas , Pathology and Cell Biology
W. El-Sayed, R.C. Shore, D.A. Parry, C.F. Inglehearn, A.J. Mighell
Journal: Cells Tissues Organs
Cells Tissues Organs (2010) 191 (3): 235–239.
https://doi.org/10.1159/000252801
Published Online: 22 October 2009
...W. El-Sayed; R.C. Shore; D.A. Parry; C.F. Inglehearn; A.J. Mighell Background: Nonsense mutations in FAM83H are a recently described underlying cause of autosomal dominant (AD) hypocalcified amelogenesis imperfecta (AI). Objective: This study aims to report a novel c.1374C>A p.Y458X nonsense...
View articletitled, Ultrastructural Analyses of Deciduous Teeth Affected by Hypocalcified Amelogenesis Imperfecta from a Family with a Novel Y458X FAM83H Nonsense Mutation
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