Cargando…
Novel TRPV4 variant causes a severe form of metatropic dysplasia
We present a girl born with a frontal bossing, short neck, bell‐shaped thorax, short limbs with prominent joints, and a tail‐like coccygeal appendage. Genetic screening of TRPV4 identified a novel de novo heterozygous missense variant. We believe the variant causes the severe form of metatropic dysp...
Autores principales: | Graversen, Lise, Haagerup, Annette, Andersen, Brian N., Petersen, Karin K., Gjørup, Vibike, Gudmundsdottir, Gudrun, Vogel, Ida, Gregersen, Pernille A. |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
John Wiley and Sons Inc.
2018
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6132144/ https://www.ncbi.nlm.nih.gov/pubmed/30214761 http://dx.doi.org/10.1002/ccr3.1598 |
Ejemplares similares
-
Novel TRPV4 Pathogenic Variant in Severe Metatropic Skeletal Dysplasia: A Case Report
por: James, D, et al.
Publicado: (2022) -
Metatropic Dysplasia of Nonlethal Variant in a Chinese Child – A Case Report
por: Tchio Tchoumba, Michele A, et al.
Publicado: (2019) -
Mild metatropic dysplasia: emphasis on the magnetic resonance imaging of articular cartilage thickening
por: Hamabe, Fumiko, et al.
Publicado: (2020) -
Characteristic Diagnostic Clues of Metatropic Dysplasia: The Lumbothoracic Humpback with Dumbbell Appearance of the Long Bones
por: Gucev, Z, et al.
Publicado: (2018) -
Novel gain-of-function mutation of TRPV4 associated with accelerated chondrogenic differentiation of dental pulp stem cells derived from a patient with metatropic dysplasia
por: Nonaka, Kentaro, et al.
Publicado: (2019)