A novelHYLS1homozygous mutation in living siblings with Joubert syndrome-Reference-Cited by-同舟云学术

A novelHYLS1homozygous mutation in living siblings with Joubert syndrome

Published:2016-03-04 Issue:6 Volume:89 Page:739-743
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clin Genet

Author:

Oka M.¹,Shimojima K.²³,Yamamoto T.²,Hanaoka Y.¹,Sato S.⁴,Yasuhara T.⁵,Yoshinaga H.¹,Kobayashi K.¹

Affiliation:

1. Department of Child Neurology; Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences and Okayama University Hospital; Okayama Japan

2. Institute for Integrated Medical Sciences; Tokyo Women's Medical University; Tokyo Japan

3. Precursory Research for Embryonic Science and Technology (PRESTO); Japan Science and Technology Agency (JST); Kawaguchi Japan

4. Department of Radiology; Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences and Okayama University Hospital; Okayama Japan

5. Department of Neurological Surgery; Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences and Okayama University Hospital; Okayama Japan

Funder

Practical Research Project for Rare/Intractable Diseases

Ministry of Education, Culture, Sports, Science, and Technology

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference18 articles.

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2. Hydrolethalus syndrome: neuropathology of 21 cases confirmed by HYLS1 gene mutation analysis;Paetau;J Neuropathol Exp Neurol,2008

3. Joubert syndrome and related disorders: spectrum of neuroimaging findings in 75 patients;Poretti;AJNR Am J Neuroradiol,2011

4. Joubert syndrome: congenital cerebellar ataxia with the molar tooth;Romani;Lancet Neurol,2013

5. Revised classification of posterior fossa cysts and cystlike malformations based on the results of multiplanar MR imaging;Barkovich;AJNR Am J Neuroradiol,1989

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