Ontology highlight
ABSTRACT:
SUBMITTER: Graversen L
PROVIDER: S-EPMC6132144 | biostudies-literature | 2018 Sep
REPOSITORIES: biostudies-literature
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]