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