Article
Terminal osseous dysplasia is caused by a single recurrent mutation in the FLNA gene.
American journal of human genetics - 9 Jul 2010
Sun Yu, Almomani Rowida, Aten Emmelien, Celli Jacopo, van der Heijden Jaap, Venselaar Hanka, Robertson Stephen P, Baroncini Anna, Franco Brunella, Basel-Vanagaite Lina, Horii Emiko, Drut Ricardo, Ariyurek Yavuz, den Dunnen Johan T, Breuning Martijn H
Abstract excerpt
Terminal osseous dysplasia (TOD) is an X-linked dominant male-lethal disease characterized by skeletal dysplasia of the limbs, pigmentary defects of the skin, and recurrent digital fibroma with onset in female infancy. After performing X-exome capture and sequencing, we identified a mutation at the last nucleotide of exon 31 of the FLNA gene as the most likely cause of the disease. The variant c.5217G>A was found...
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