Article
Mutations in the beta propeller WDR72 cause autosomal-recessive hypomaturation amelogenesis imperfecta.
American journal of human genetics - 1 Nov 2009
El-Sayed Walid, Parry David A, Shore Roger C, Ahmed Mushtaq, Jafri Hussain, Rashid Yasmin, Al-Bahlani Suhaila, Al Harasi Sharifa, Kirkham Jennifer, Inglehearn Chris F, Mighell Alan J
Abstract excerpt
Healthy dental enamel is the hardest and most highly mineralized human tissue. Though acellular, nonvital, and without capacity for turnover or repair, it can nevertheless last a lifetime. Amelogenesis imperfecta (AI) is a collective term for failure of normal enamel development, covering diverse clinical phenotypes that typically show Mendelian inheritance patterns. One subset, known as hypomaturation AI, is...
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