Your browser does not fully support modern features. Please upgrade for a smoother experience.
Submitted Successfully!
+1 credit
Thank you for your contribution! You can also upload a video entry or images related to this topic.
For video creation, please contact our Academic Video Service.
| Version | Summary | Created by | Modification | Content Size | Created at | Operation |
|---|---|---|---|---|---|---|
| 1 | Camila Xu | + 630 word(s) | 630 | 2020-12-15 07:25:47 |
Video Upload Options
We provide professional Academic Video Service to translate complex research into visually appealing presentations. Would you like to try it?
Cite
If you have any further questions, please contact Encyclopedia Editorial Office.
Xu, C. Gordon Holmes Syndrome. Encyclopedia. Available online: https://encyclopedia.pub/entry/4044 (accessed on 25 September 2026).
Xu C. Gordon Holmes Syndrome. Encyclopedia. Available at: https://encyclopedia.pub/entry/4044. Accessed September 25, 2026.
Xu, Camila. "Gordon Holmes Syndrome" Encyclopedia, https://encyclopedia.pub/entry/4044 (accessed September 25, 2026).
Xu, C. (2020, December 23). Gordon Holmes Syndrome. In Encyclopedia. https://encyclopedia.pub/entry/4044
Xu, Camila. "Gordon Holmes Syndrome." Encyclopedia. Web. 23 December, 2020.
Copy Citation
Gordon Holmes syndrome is a rare condition characterized by reproductive and neurological problems.
genetic conditions
References
- Alqwaifly M, Bohlega S. Ataxia and Hypogonadotropic Hypogonadism withIntrafamilial Variability Caused by RNF216 Mutation. Neurol Int. 2016 Jun15;8(2):6444. doi: 10.4081/ni.2016.6444.
- Husain N, Yuan Q, Yen YC, Pletnikova O, Sally DQ, Worley P, Bichler Z, ShawnJe H. TRIAD3/RNF216 mutations associated with Gordon Holmes syndrome lead tosynaptic and cognitive impairments via Arc misregulation. Aging Cell. 2017Apr;16(2):281-292. doi: 10.1111/acel.12551.
- Margolin DH, Kousi M, Chan YM, Lim ET, Schmahmann JD, Hadjivassiliou M, HallJE, Adam I, Dwyer A, Plummer L, Aldrin SV, O'Rourke J, Kirby A, Lage K, Milunsky A, Milunsky JM, Chan J, Hedley-Whyte ET, Daly MJ, Katsanis N, Seminara SB.Ataxia, dementia, and hypogonadotropism caused by disordered ubiquitination. NEngl J Med. 2013 May 23;368(21):1992-2003. doi: 10.1056/NEJMoa1215993.
- Topaloglu AK, Lomniczi A, Kretzschmar D, Dissen GA, Kotan LD, McArdle CA, Koc AF, Hamel BC, Guclu M, Papatya ED, Eren E, Mengen E, Gurbuz F, Cook M, CastellanoJM, Kekil MB, Mungan NO, Yuksel B, Ojeda SR. Loss-of-function mutations in PNPLA6encoding neuropathy target esterase underlie pubertal failure and neurologicaldeficits in Gordon Holmes syndrome. J Clin Endocrinol Metab. 2014Oct;99(10):E2067-75. doi: 10.1210/jc.2014-1836.
More
Information
Subjects:
Genetics & Heredity
Contributor
MDPI registered users' name will be linked to their SciProfiles pages. To register with us, please refer to https://encyclopedia.pub/register
:
View Times:
1.2K
Entry Collection:
MedlinePlus
Revision:
1 time
(View History)
Update Date:
23 Dec 2020
Table of Contents
Notice
You are not a member of the advisory board for this topic. If you want to update advisory board member profile, please contact office@encyclopedia.pub.
OK
Confirm
Only members of the Encyclopedia advisory board for this topic are allowed to note entries. Would you like to become an advisory board member of the Encyclopedia?
Yes
No
${ textCharacter }/${ maxCharacter }
Submit
Cancel
Back
Comments
${ item }
|
${ item.createdUser.fullName }
${ item.createdAt }
${ item.vote }
${ item.reply }
Delete
${ reply.createdUser.fullName }
${ reply.createdAt }
${ reply.vote }
Delete
There is no reply to this comment~
${ item.replyTextCharacter }/${ item.replyMaxCharacter }
Submit
Cancel
More
No more~
There is no comment~
${ textCharacter }/${ maxCharacter }
Submit
Cancel
${ selectedItem.replyTextCharacter }/${ selectedItem.replyMaxCharacter }
Submit
Cancel
Confirm
Are you sure to Delete?
Yes
No