Terminal osseous dysplasia
Definition:
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. TOD is caused by a mutation in the FLNA gene.
References:
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[1]. Anna Baroncini, et al. Terminal osseous dysplasia with pigmentary defects: clinical description of a new family. Am J Med Genet A. 2007 Jan 1;143A(1):51-7. [Content Brief]
[2]. Yu Sun, et al. Terminal osseous dysplasia is caused by a single recurrent mutation in the FLNA gene. Am J Hum Genet. 2010 Jul 9;87(1):146-53. [Content Brief]
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