A Novel GJA1 Mutation in Oculodentodigital Dysplasia with Progressive Spastic Paraplegia and Sensory Deficits-Reference-Cited by-同舟云学术

A Novel GJA1 Mutation in Oculodentodigital Dysplasia with Progressive Spastic Paraplegia and Sensory Deficits

Published:2012 Issue:1 Volume:51 Page:93-98
ISSN:0918-2918
Container-title:Internal Medicine
language:en
Short-container-title:Intern. Med.

Author:

Furuta Natsumi¹²,Ikeda Masaki¹,Hirayanagi Kimitoshi¹²,Fujita Yukio¹,Amanuma Makoto³,Okamoto Koichi¹

Affiliation:

1. Department of Neurology, Gunma University Graduate School of Medicine, Japan

2. Department of Neurology, Maebashi Red Cross Hospital, Japan

3. Diagnostic Radiology and Nuclear Medicine, Gunma University Graduate School of Medicine, Japan

Publisher

Japanese Society of Internal Medicine

Subject

General Medicine,Internal Medicine

Link

http://www.jstage.jst.go.jp/article/internalmedicine/51/1/51_1_93/_pdf

Reference31 articles.

1. 1. Reisner SH, Kott E, Bornstein B, Salinger H, Kaplan I, Gordin RJ. Oculodentodigital dysplasia. Am J Dis Child 118: 600-607, 1969.

2. 2. Patton MA, Laurence KM. Three new cases of oculodentodigital (ODD) syndrome: development of the facial phenotype. J Med Genet 22: 386-389, 1985.

3. Neurological manifestations of the oculodentodigital dysplasia syndrome

4. Connexin 43 (GJA1) Mutations Cause the Pleiotropic Phenotype of Oculodentodigital Dysplasia

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