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Your search keyword '"Gjørup, Vibike"' showing total 1 results
Start Over Author "Gjørup, Vibike" Topic chest (anatomy)
1 results on '"Gjørup, Vibike"'

1. Novel TRPV4 variant causes a severe form of metatropic dysplasia.

Author

Graversen, Lise, Haagerup, Annette, Andersen, Brian N., Petersen, Karin K., Gjørup, Vibike, Gudmundsdottir, Gudrun, Vogel, Ida, and Gregersen, Pernille A.

Subjects
DYSPLASIA, EXTREMITIES (Anatomy), CHEST (Anatomy), PHENOTYPES, JOINTS (Anatomy)
Abstract

Key Clinical Message: 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. [ABSTRACT FROM AUTHOR]

Published
2018
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