Literature DB >> 12868401

[Significance of neuroimaging in the diagnosis of Boucher-Neuhauser syndrome].

Angelina V Santos1, Paulo F Saraiva, Paula N Breia.   

Abstract

The authors report a case of a young patient with the clinic triad of cerebellar ataxia, retinal dystrophy and hypogonadotropic hypogonadism (Boucher Neuhauser Syndrome), of probable autosomal recessive inheritance, in which the brain MRI has a major role to the diagnosis.

Entities:  

Mesh:

Year:  2003        PMID: 12868401

Source DB:  PubMed          Journal:  Acta Med Port        ISSN: 0870-399X


  2 in total

1.  Compound heterozygous PNPLA6 mutations cause Boucher-Neuhäuser syndrome with late-onset ataxia.

Authors:  A Deik; B Johannes; J C Rucker; E Sánchez; S E Brodie; E Deegan; K Landy; Y Kajiwara; S Scelsa; R Saunders-Pullman; C Paisán-Ruiz
Journal:  J Neurol       Date:  2014-09-30       Impact factor: 4.849

2.  A novel PNPLA6 compound heterozygous mutation identified in a Chinese patient with Boucher‑Neuhäuser syndrome.

Authors:  Ruizhi Zheng; Yaguang Zhao; Jiayu Wu; Yuanmei Wang; Jian-Ling Liu; Zhi-Ling Zhou; Xiao-Tao Zhou; Dan-Na Chen; Wei-Hua Liao; Jia-Da Li
Journal:  Mol Med Rep       Date:  2018-05-03       Impact factor: 2.952

  2 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.