A case with central and peripheral hypomyelination with hypogonadotropic hypogonadism and hypodontia (4H syndrome) plus cataract
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I. Nonaka | H. Osaka | S. Okahashi | K. Haginoya | M. Uematsu | Soichiro Tanaka | I. Sato | Akira Onuma | I. Fujiwara | Nobue Goto | F. Sakai
[1] E. Obersztyn,et al. Hypomyelination, hypogonadotropic hypogonadism, hypodontia – First Polish patient , 2010, Brain and Development.
[2] P. Vermersch,et al. 4H syndrome: a rare cause of leukodystrophy , 2010, Journal of Neurology.
[3] D. Larizza,et al. New case of 4H syndrome and a review of the literature. , 2010, Pediatric neurology.
[4] J. Takanashi,et al. Diffuse cerebral hypomyelination with cerebellar atrophy and hypoplasia of the corpus callosum , 2009, Brain and Development.
[5] R. Schiffmann,et al. Invited Article: An MRI-based approach to the diagnosis of white matter disorders , 2009, Neurology.
[6] F. M. Valle,et al. Hipomielinización central, hipogonadismo hipogonadotrófico e hipodontia : una nueva forma de leucodistrofia , 2008 .
[7] M. Vázquez-López,et al. [Central hypomyelination, hypogonadotrophic hypogonadism and hypodontia: a new leukodystrophy]. , 2008, Revista de neurologia.
[8] I. Harting,et al. Ataxia, Delayed Dentition and Hypomyelination: A Novel Leukoencephalopathy , 2007, Neuropediatrics.
[9] R. Schiffmann,et al. Peripheral and central hypomyelination with hypogonadotropic hypogonadism and hypodontia , 2006, Neurology.
[10] I. Harting,et al. Leukoencephalopathy with ataxia, hypodontia, and hypomyelination , 2005, Neurology.
[11] Peter Nürnberg,et al. Mutations in the gene encoding gap junction protein alpha 12 (connexin 46.6) cause Pelizaeus-Merzbacher-like disease. , 2004, American journal of human genetics.
[12] G. Kraft,et al. Peripheral Neuropathy Caused by Proteolipid Protein Gene Mutations , 1999, Annals of the New York Academy of Sciences.