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 Rita Xu + 495 word(s) 495 2020-12-15 07:32:49

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, R. Nail-patella Syndrome. Encyclopedia. Available online: https://encyclopedia.pub/entry/4471 (accessed on 29 September 2026).
Xu R. Nail-patella Syndrome. Encyclopedia. Available at: https://encyclopedia.pub/entry/4471. Accessed September 29, 2026.
Xu, Rita. "Nail-patella Syndrome" Encyclopedia, https://encyclopedia.pub/entry/4471 (accessed September 29, 2026).
Xu, R. (2020, December 23). Nail-patella Syndrome. In Encyclopedia. https://encyclopedia.pub/entry/4471
Xu, Rita. "Nail-patella Syndrome." Encyclopedia. Web. 23 December, 2020.
Nail-patella Syndrome
Edit

Nail-patella syndrome is characterized by abnormalities of the nails, knees, elbows, and pelvis. The features of nail-patella syndrome vary in severity between affected individuals, even among members of the same family.

genetic conditions

References

  1. Bongers EM, Huysmans FT, Levtchenko E, de Rooy JW, Blickman JG, Admiraal RJ,Huygen PL, Cruysberg JR, Toolens PA, Prins JB, Krabbe PF, Borm GF, Schoots J, vanBokhoven H, van Remortele AM, Hoefsloot LH, van Kampen A, Knoers NV.Genotype-phenotype studies in nail-patella syndrome show that LMX1B mutationlocation is involved in the risk of developing nephropathy. Eur J Hum Genet. 2005Aug;13(8):935-46.
  2. Marini M, Bocciardi R, Gimelli S, Di Duca M, Divizia MT, Baban A, Gaspar H,Mammi I, Garavelli L, Cerone R, Emma F, Bedeschi MF, Tenconi R, Sensi A, SalmaggiA, Bengala M, Mari F, Colussi G, Szczaluba K, Antonarakis SE, Seri M, Lerone M,Ravazzolo R. A spectrum of LMX1B mutations in Nail-Patella syndrome: new pointmutations, deletion, and evidence of mosaicism in unaffected parents. Genet Med. 2010 Jul;12(7):431-9. doi: 10.1097/GIM.0b013e3181e21afa.
  3. McIntosh I, Dunston JA, Liu L, Hoover-Fong JE, Sweeney E. Nail patellasyndrome revisited: 50 years after linkage. Ann Hum Genet. 2005 Jul;69(Pt4):349-63.
  4. Sweeney E, Fryer A, Mountford R, Green A, McIntosh I. Nail patella syndrome: areview of the phenotype aided by developmental biology. J Med Genet. 2003Mar;40(3):153-62.
  5. Sweeney E, Hoover-Fong JE, McIntosh I. Nail-Patella Syndrome. 2003 May 31[updated 2020 Oct 15]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): Universityof Washington, Seattle; 1993-2020. Available fromhttp://www.ncbi.nlm.nih.gov/books/NBK1132/
More
Upload a video for this entry
Information
Contributor MDPI registered users' name will be linked to their SciProfiles pages. To register with us, please refer to https://encyclopedia.pub/register : Rita Xu
View Times: 663
Entry Collection: MedlinePlus
Revision: 1 time (View History)
Update Date: 23 Dec 2020
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