A Case of INPP5E-Related Joubert Syndrome: Connecting Evolving Phenotype With Novel Genotype

被引：1

作者：

Kumar, Nankee ^{[1
]}

Nomakuchi, Tomoki ^{[2
]}

Vossough, Arastoo ^{[3
]}

Leonard, Jacqueline M. M. ^{[2
]}

Dubbs, Holly ^{[4
]}

Agarwal, Sonika ^{[1
,4
,5
]}

机构：

[1] Univ Penn, Perelman Sch Med, Philadelphia, PA USA

[2] Childrens Hosp Philadelphia, Div Human Genet, Philadelphia, PA USA

[3] Univ Penn, Childrens Hosp Philadelphia, Perelman Sch Med, Dept Radiol, Philadelphia, PA USA

[4] Childrens Hosp Philadelphia, Div Neurol, Philadelphia, PA USA

[5] Childrens Hosp Philadelphia, Div Neurol, 3401 Civ Ctr Blvd, Philadelphia, PA 19104 USA

来源：

PEDIATRIC NEUROLOGY | 2023年 / 145卷

关键词：

Joubert syndrome; INPP5E; Oculomotor apraxia; Exotropia; Head bobbing; DISORDERS; SPECTRUM;

D O I：

10.1016/j.pediatrneurol.2023.04.021

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

[No abstract available]

引用

页码：112 / 114

页数：3

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