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Novel TRPV4 variant causes a severe form of metatropic dysplasia.

ABSTRACT: 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.

SUBMITTER: Graversen L 

PROVIDER: S-EPMC6132144 | biostudies-literature | 2018 Sep

REPOSITORIES: biostudies-literature

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Novel <i>TRPV4</i> variant causes a severe form of metatropic dysplasia.

Graversen Lise L   Haagerup Annette A   Andersen Brian N BN   Petersen Karin K KK   Gjørup Vibike V   Gudmundsdottir Gudrun G   Vogel Ida I   Gregersen Pernille A PA  

Clinical case reports 20180720 9

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 <i>TRPV4</i> identified a novel de novo heterozygous missense variant. We believe the variant causes the severe form of metatropic dysplasia in this patient. ...[more]

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