Published in BMC Med Genet on December 19, 2012
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Isolated oligodontia associated with mutations in EDARADD, AXIN2, MSX1, and PAX9 genes. Am J Med Genet A (2011) 1.06
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Mutations in Frizzled 6 cause isolated autosomal-recessive nail dysplasia. Am J Hum Genet (2011) 1.00
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Down-regulation of progesterone receptor membrane component 1 (PGRMC1) in peripheral nucleated blood cells associated with premature ovarian failure (POF) and polycystic ovary syndrome (PCOS). Reprod Biol Endocrinol (2010) 0.97
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A single-nucleotide deletion in the POMP 5' UTR causes a transcriptional switch and altered epidermal proteasome distribution in KLICK genodermatosis. Am J Hum Genet (2010) 0.95
Frizzled6 deficiency disrupts the differentiation process of nail development. J Invest Dermatol (2013) 0.93
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Infantile cerebellar-retinal degeneration associated with a mutation in mitochondrial aconitase, ACO2. Am J Hum Genet (2012) 0.92
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SPG11 mutations cause Kjellin syndrome, a hereditary spastic paraplegia with thin corpus callosum and central retinal degeneration. Am J Med Genet B Neuropsychiatr Genet (2009) 0.91
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