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...

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Detalles Bibliográficos
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:
Case Reports
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
Descripción
Sumario: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 dysplasia in this patient.

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