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:

[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]

Biomedical Dictionary

The Biomedical Dictionary is a comprehensive and professional collection of biological academic terms and subject datas. All explanations are supported by authoritative books or high impact factor literatures, and you can acquire accurate explanations of the biomedical terms you want to know.

A B C D E F G H I J K L M N O P Q R S T U V W X Y Z #

Name
Email *

	Sorry, but the email address you supplied was invalid.