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 + 581 word(s) 581 2020-12-15 07:34:06

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. Otopalatodigital Syndrome Type 1. Encyclopedia. Available online: https://encyclopedia.pub/entry/4841 (accessed on 26 September 2026).
Xu R. Otopalatodigital Syndrome Type 1. Encyclopedia. Available at: https://encyclopedia.pub/entry/4841. Accessed September 26, 2026.
Xu, Rita. "Otopalatodigital Syndrome Type 1" Encyclopedia, https://encyclopedia.pub/entry/4841 (accessed September 26, 2026).
Xu, R. (2020, December 24). Otopalatodigital Syndrome Type 1. In Encyclopedia. https://encyclopedia.pub/entry/4841
Xu, Rita. "Otopalatodigital Syndrome Type 1." Encyclopedia. Web. 24 December, 2020.
Otopalatodigital Syndrome Type 1
Edit

Otopalatodigital syndrome type 1 is a disorder primarily involving abnormalities in skeletal development.

genetic conditions

References

  1. Hidalgo-Bravo A, Pompa-Mera EN, Kofman-Alfaro S, Gonzalez-Bonilla CR, Zenteno JC. A novel filamin A D203Y mutation in a female patient with otopalatodigitaltype 1 syndrome and extremely skewed X chromosome inactivation. Am J Med Genet A.2005 Jul 15;136(2):190-3.
  2. Joksic I, Cuturilo G, Jurisic A, Djuricic S, Peterlin B, Mijovic M, KaradzovON, Egic A, Milovanovic Z. Otopalatodigital Syndrome Type I: NovelCharacteristics and Prenatal Manifestations in two Siblings. Balkan J Med Genet. 2019 Dec 21;22(2):83-88. doi: 10.2478/bjmg-2019-0024.
  3. Moutton S, Fergelot P, Naudion S, Cordier MP, Solé G, Guerineau E, Hubert C,Rooryck C, Vuillaume ML, Houcinat N, Deforges J, Bouron J, Devès S, Le Merrer M, David A, Geneviève D, Giuliano F, Journel H, Megarbane A, Faivre L, Chassaing N, Francannet C, Sarrazin E, Stattin EL, Vigneron J, Leclair D, Abadie C, Sarda P,Baumann C, Delrue MA, Arveiler B, Lacombe D, Goizet C, Coupry I. Otopalatodigitalspectrum disorders: refinement of the phenotypic and mutational spectrum. J HumGenet. 2016 Aug;61(8):693-9. doi: 10.1038/jhg.2016.37.
  4. Robertson S. X-Linked Otopalatodigital Spectrum Disorders. 2005 Nov 30[updated 2019 Oct 3]. 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/NBK1393/
  5. Robertson SP, Twigg SR, Sutherland-Smith AJ, Biancalana V, Gorlin RJ, Horn D, Kenwrick SJ, Kim CA, Morava E, Newbury-Ecob R, Orstavik KH, Quarrell OW, SchwartzCE, Shears DJ, Suri M, Kendrick-Jones J, Wilkie AO; OPD-spectrum DisordersClinical Collaborative Group. Localized mutations in the gene encoding thecytoskeletal protein filamin A cause diverse malformations in humans. Nat Genet. 2003 Apr;33(4):487-91.
  6. Robertson SP. Otopalatodigital syndrome spectrum disorders: otopalatodigitalsyndrome types 1 and 2, frontometaphyseal dysplasia and Melnick-Needles syndrome.Eur J Hum Genet. 2007 Jan;15(1):3-9.
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: 1.1K
Entry Collection: MedlinePlus
Revision: 1 time (View History)
Update Date: 24 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