Novel Trpv4 Variant Causes A Severe Form Of Metatropic Dysplasia
CLINICAL CASE REPORTS(2018)
摘要
Key Clinical MessageWe 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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关键词
genetic diseases,metatropic dysplasia,rare diseases,TRPV4
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