Article
Mutations in C4orf26, encoding a peptide with in vitro hydroxyapatite crystal nucleation and growth activity, cause amelogenesis imperfecta.
American journal of human genetics - 7 Sept 2012
Parry David A, Brookes Steven J, Logan Clare V, Poulter James A, El-Sayed Walid, Al-Bahlani Suhaila, Al Harasi Sharifa, Sayed Jihad, Raïf El Mostafa, Shore Roger C, Dashash Mayssoon, Barron Martin, Morgan Joanne E, Carr Ian M, Taylor Graham R, Johnson Colin A, Aldred Michael J, Dixon Michael J, Wright J Tim, Kirkham Jennifer, Inglehearn Chris F, Mighell Alan J
Abstract excerpt
Autozygosity mapping and clonal sequencing of an Omani family identified mutations in the uncharacterized gene, C4orf26, as a cause of recessive hypomineralized amelogenesis imperfecta (AI), a disease in which the formation of tooth enamel fails. Screening of a panel of 57 autosomal-recessive AI-...
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