TMEM67 mutations found in a case of Joubert syndrome with renal hypodysplasia View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2016-11

AUTHORS

Yumiko Komatsu, Toshifumi Suzuki, Yoshinori Tsurusaki, Noriko Miyake, Naomichi Matsumoto, Kunimasa Yan

ABSTRACT

Joubert syndrome is a rare inherited cerebellar ataxia with the dysgenesis of the cerebellar vermis, called the molar tooth sign. The combination of a large number of causative genes, more than 27, and the various clinical features involving multiple organs has established many genotypic-phenotypic correlations in Joubert syndrome. TMEM67 is one of the genes that are relatively well established as contributing to Joubert syndrome with liver involvement. Here, we report a 2-month-old boy who was initially treated for urinary tract infection, which further led to the diagnosis of Joubert syndrome accompanied by renal hypodysplasia with two different mutations: c.2522A>C and c.1065 + 4Adel in TMEM67. More... »

PAGES

137-140

Journal

TITLE

CEN Case Reports

ISSUE

2

VOLUME

5

Identifiers

URI

http://scigraph.springernature.com/pub.10.1007/s13730-015-0210-1

DOI

http://dx.doi.org/10.1007/s13730-015-0210-1

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1043740399

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/28508964


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