Metatropic dysplasia is associated with increased fracture risk
Author:
Affiliation:
1. Division of Medical Genetics; Nemours/Alfred I. duPont Hospital for Children; Wilmington Delaware
2. Department of Orthopaedics; Nemours/Alfred I. duPont Hospital for Children; Wilmington Delaware
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.37576/fullpdf
Reference12 articles.
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3. TRPV4-pathy manifesting both skeletal dysplasia and peripheral neuropathy: A report of three patients;Cho;Am J Med Genet Part A,2012
4. Scapuloperoneal spinal muscular atrophy and CMT2C are allelic disorders caused by alterations in TRPV4;Deng;Nat Genet,2010
5. The vanilloid transient receptor potential channel TRPV4: From structure to disease;Everaets;Prog Biophys Mol Biol,2010
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1. Natural history of TRPV4-Related disorders: From skeletal dysplasia to neuromuscular phenotype;European Journal of Paediatric Neurology;2021-05
2. Metatropic Dysplasia of Nonlethal Variant in a Chinese Child – A Case Report;Orthopaedic Surgery;2019-12-06
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