Head titubation and irritability as early symptoms of Joubert syndrome with a homozygous NPHP1 variant-Reference-Cited by-同舟云学术

Head titubation and irritability as early symptoms of Joubert syndrome with a homozygous NPHP1 variant

Published:2021-09 Issue:8 Volume:43 Page:863-866
ISSN:0387-7604
Container-title:Brain and Development
language:en
Short-container-title:Brain and Development

Author:

Sakurai Yoshie^ORCID,Watanabe Tatsuya,Abe Yuki,Nawa Tatsuro,Uchida Toshihiko^ORCID,Aoi Hiromi,Mizuguchi Takeshi^ORCID,Matsumoto Naomichi,Haginoya Kazuhiro

Funder

Japan Society for the Promotion of Science

Ministry of Health, Labour and Welfare

National Center of Neurology and Psychiatry

Japan Agency for Medical Research and Development

Takeda Science Foundation

Publisher

Elsevier BV

Subject

Neurology (clinical),Developmental Neuroscience,General Medicine,Pediatrics, Perinatology and Child Health

Reference12 articles.

1. Congenital malformations of the central nervous system;Huang,2018

2. Horizontal head titubation in infants with Joubert syndrome: a new finding;Poretti;Dev Med Child Neurol,2014

3. Joubert syndrome and related disorders;Paprocka;Neurol Neurochir Pol,2012

4. Mutations in ARMC9, which encodes a basal body protein, cause Joubert syndrome in humans and ciliopathy phenotypes in Zebrafish;Van De Weghe;Am J Hum Genet,2017

5. Parisi M, Glass I. Joubert Syndrome. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, editors. GeneReviews [Internet]. Seattle: 2017.

Cited by 1 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献