Your browser does not fully support modern features. Please upgrade for a smoother experience.
Submitted Successfully!
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 + 449 word(s) 449 2020-12-15 07:27:35

Video Upload Options

We provide professional Academic Video Service to translate complex research into visually appealing presentations. Would you like to try it?
No, upload directly Yes
Cite
If you have any further questions, please contact Encyclopedia Editorial Office.
Xu, C. Hypomyelination and Congenital Cataract. Encyclopedia. Available online: https://encyclopedia.pub/entry/4252 (accessed on 29 September 2026).
Xu C. Hypomyelination and Congenital Cataract. Encyclopedia. Available at: https://encyclopedia.pub/entry/4252. Accessed September 29, 2026.
Xu, Camila. "Hypomyelination and Congenital Cataract" Encyclopedia, https://encyclopedia.pub/entry/4252 (accessed September 29, 2026).
Xu, C. (2020, December 23). Hypomyelination and Congenital Cataract. In Encyclopedia. https://encyclopedia.pub/entry/4252
Xu, Camila. "Hypomyelination and Congenital Cataract." Encyclopedia. Web. 23 December, 2020.
Hypomyelination and Congenital Cataract
Edit
This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/hypomyelination-and-congenital-cataract

Hypomyelination and congenital cataract is an inherited condition that affects the nervous system and the eyes.

genetic conditions

References

  1. Biancheri R, Zara F, Bruno C, Rossi A, Bordo L, Gazzerro E, Sotgia F,Pedemonte M, Scapolan S, Bado M, Uziel G, Bugiani M, Lamba LD, Costa V, Schenone A, Rozemuller AJ, Tortori-Donati P, Lisanti MP, van der Knaap MS, Minetti C.Phenotypic characterization of hypomyelination and congenital cataract. AnnNeurol. 2007 Aug;62(2):121-7.
  2. Rossi A, Biancheri R, Zara F, Bruno C, Uziel G, van der Knaap MS, Minetti C,Tortori-Donati P. Hypomyelination and congenital cataract: neuroimaging features of a novel inherited white matter disorder. AJNR Am J Neuroradiol. 2008Feb;29(2):301-5.
  3. Ugur SA, Tolun A. A deletion in DRCTNNB1A associated with hypomyelination and juvenile onset cataract. Eur J Hum Genet. 2008 Feb;16(2):261-4.
  4. Zara F, Biancheri R, Bruno C, Bordo L, Assereto S, Gazzerro E, Sotgia F, Wang XB, Gianotti S, Stringara S, Pedemonte M, Uziel G, Rossi A, Schenone A,Tortori-Donati P, van der Knaap MS, Lisanti MP, Minetti C. Deficiency of hyccin, a newly identified membrane protein, causes hypomyelination and congenitalcataract. Nat Genet. 2006 Oct;38(10):1111-3.
More
©Text is available under the terms and conditions of the Creative Commons-Attribution ShareAlike (CC BY-SA) license; additional terms may apply. By using this site, you agree to the Terms and Conditions and Privacy Policy.
Upload a video for this entry
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 : Camila Xu
View Times: 619
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
    There is no comment~
    ${ textCharacter }/${ maxCharacter }
    Submit
    Cancel
    ${ selectedItem.replyTextCharacter }/${ selectedItem.replyMaxCharacter }
    Submit
    Cancel
    Confirm
    Are you sure to Delete?
    Yes No
    Academic Video Service
    Feedback