Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2016 1
2017 1
2018 1
2024 0

Text availability

Article attribute

Article type

Publication date

Search Results

2 results

Results by year

Filters applied: . Clear all
Page 1
A novel PNPLA6 compound heterozygous mutation identified in a Chinese patient with Boucher-Neuhauser syndrome.
Zheng R, Zhao Y, Wu J, Wang Y, Liu JL, Zhou ZL, Zhou XT, Chen DN, Liao WH, Li JD. Zheng R, et al. Mol Med Rep. 2018 Jul;18(1):261-267. doi: 10.3892/mmr.2018.8955. Epub 2018 May 3. Mol Med Rep. 2018. PMID: 29749493 Free PMC article. Clinical Trial.
The combination of cerebellar degeneration, hypogonadotropic hypogonadism and chorioretinal dystrophy defines Boucher-Neuhauser syndrome (BNS), which has been associated with autosomal-recessive mutations in the patatin-like phospholipase domain containing 6 …
The combination of cerebellar degeneration, hypogonadotropic hypogonadism and chorioretinal dystrophy defines Boucher-Neuhauser …
Phenotypic spectrum of POLR3B mutations: isolated hypogonadotropic hypogonadism without neurological or dental anomalies.
Richards MR, Plummer L, Chan YM, Lippincott MF, Quinton R, Kumanov P, Seminara SB. Richards MR, et al. J Med Genet. 2017 Jan;54(1):19-25. doi: 10.1136/jmedgenet-2016-104064. Epub 2016 Aug 10. J Med Genet. 2017. PMID: 27512013 Free PMC article.
BACKGROUND: A constellation of neurodegenerative disorders exists (Gordon Holmes syndrome, 4H leucodystrophy, Boucher-Neuhauser syndrome) in which patients suffer from both neurological disease (typically manifested by ataxia) and reproductive failure (idiopa …
BACKGROUND: A constellation of neurodegenerative disorders exists (Gordon Holmes syndrome, 4H leucodystrophy, Boucher-Neuhauser …