Version 1
: Received: 15 February 2020 / Approved: 18 February 2020 / Online: 18 February 2020 (02:47:09 CET)
How to cite:
Thom, C.S.; Brandsma, E.; Lambert, M.P. Thrombocytosis in an Infant with a TRPV4 Mutation: A Case Report. Preprints2020, 2020020252. https://doi.org/10.20944/preprints202002.0252.v1
Thom, C.S.; Brandsma, E.; Lambert, M.P. Thrombocytosis in an Infant with a TRPV4 Mutation: A Case Report. Preprints 2020, 2020020252. https://doi.org/10.20944/preprints202002.0252.v1
Thom, C.S.; Brandsma, E.; Lambert, M.P. Thrombocytosis in an Infant with a TRPV4 Mutation: A Case Report. Preprints2020, 2020020252. https://doi.org/10.20944/preprints202002.0252.v1
APA Style
Thom, C.S., Brandsma, E., & Lambert, M.P. (2020). Thrombocytosis in an Infant with a <em>TRPV4</em> Mutation: A Case Report. Preprints. https://doi.org/10.20944/preprints202002.0252.v1
Chicago/Turabian Style
Thom, C.S., Erik Brandsma and Michele P. Lambert. 2020 "Thrombocytosis in an Infant with a <em>TRPV4</em> Mutation: A Case Report" Preprints. https://doi.org/10.20944/preprints202002.0252.v1
Abstract
Mutations in the calcium channel gene Transient Receptor Potential cation channel subfamily V member 4 (TRPV4) cause autosomal dominant skeletal dysplasia, with phenotypes ranging from mild to perinatal lethality. A recent report detailed murine thrombocytosis in the absence of functional TRPV4, but no prior reports have described platelet count abnormalities in the context of human TRPV4 disease. Here, we report a case of prolonged thrombocytosis in the context of TRPV4-associated metatropic dysplasia that was lethal in the infantile period.
Medicine and Pharmacology, Pediatrics, Perinatology and Child Health
Copyright:
This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
