Novel TRPV4 variant causes a severe form of metatropic dysplasia

被引：6
|
作者：
Graversen, Lise [1 ,2 ]
Haagerup, Annette [3 ,4 ]
Andersen, Brian N. [1 ]
Petersen, Karin K. [5 ]
Gjorup, Vibike [6 ]
Gudmundsdottir, Gudrun [7 ]
Vogel, Ida [2 ]
Gregersen, Pernille A. [1 ,2 ]
机构：
[1] Aarhus Univ Hosp, Ctr Rare Dis, Pediat & Adolescent Med, Aarhus, Denmark
[2] Aarhus Univ Hosp, Dept Clin Genet, Aarhus, Denmark
[3] West Danish Hosp, NIDO Danmark, Herning, Denmark
[4] Aarhus Univ, Inst Clin Med, Aarhus, Denmark
[5] Aarhus Univ Hosp, Dept Radiol, Aarhus, Denmark
[6] Aarhus Univ Hosp, Dept Gynaecol & Obstet, Aarhus, Denmark
[7] Aarhus Univ Hosp, Dept Neurosurg, Aarhus, Denmark
来源：
CLINICAL CASE REPORTS | 2018年 / 6卷 / 09期
关键词：
genetic diseases; metatropic dysplasia; rare diseases; TRPV4;
D O I：
10.1002/ccr3.1598
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
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.
引用
收藏
页码：1774 / 1778
页数：5
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