Metatropic dysplasia in third trimester of pregnancy and a novel causative variant in the TRPV4 gene.
Sign Up to like & getrecommendations! Published in 2017 at "European journal of medical genetics"
DOI: 10.1016/j.ejmg.2017.04.007
Abstract: Prenatal diagnosis of skeletal dysplasias is particularly difficult for many reasons and differentiating these disorders in the prenatal period can be challenging because they are rare and many of the ultrasound findings are not necessarily… read more here.
Keywords: causative variant; metatropic dysplasia; diagnosis; trpv4 gene ... See more keywords
Case of Charcot-Marie-Tooth Type 2C Due to a TRPV4 Gene Mutation With Isolated Sudomotor Autonomic Dysfunction.
Sign Up to like & getrecommendations! Published in 2018 at "Journal of Clinical Neuromuscular Disease"
DOI: 10.1097/cnd.0000000000000187
Abstract: To the Editor: Charcot–Marie–Tooth (CMT) 2C is an autosomal dominant hereditary neuropathy associated with mutations in the TRPV4 gene on chromosome 12q23-241 (OMIM: 606071). Neurologic features of CMT2C include peripheral neuropathy (axonal), limb atrophy, muscle… read more here.
Keywords: trpv4 gene; dysfunction; charcot marie; autonomic dysfunction ... See more keywords