The genetics of fibrodysplasia ossificans progressiva

EM Shore, GJ Feldman, M Xu, FS Kaplan - Clinical Reviews in Bone and …, 2005 - Springer
EM Shore, GJ Feldman, M Xu, FS Kaplan
Clinical Reviews in Bone and Mineral Metabolism, 2005Springer
Fibrodysplasia ossificans progressiva (FOP) is a rare, heritable disorder with infrequent
genetic transmission of the condition owing to low reproductive, fitness. The recent
identification of several small, additional families with inheritance of classic features of FOP
has provided the opportunity to expand positional cloning efforts to identify the mutated gene
in FOP through whole-genome linkage nnalyses. Candidate gene studies using both
genetic (linkage), and molecular (gene expression) approaches also are contributing to …
Abstract
Fibrodysplasia ossificans progressiva (FOP) is a rare, heritable disorder with infrequent genetic transmission of the condition owing to low reproductive, fitness. The recent identification of several small, additional families with inheritance of classic features of FOP has provided the opportunity to expand positional cloning efforts to identify the mutated gene in FOP through whole-genome linkage nnalyses. Candidate gene studies using both genetic (linkage), and molecular (gene expression) approaches also are contributing to information about the genetic and cellular, causes of FOP.
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