This site needs JavaScript to work properly. Please enable it to take advantage of the complete set of features!

Skip to main page content

Email citation

Add to Collections

Your saved search

Name of saved search:

Search terms:

Test search terms

Would you like email updates of new search results?

Yes
No

Email: (change)

Frequency:

Which day?

Which day?

Report format:

Send at most:

Send even when there aren't any new results

Optional text in email:

Your RSS Feed

Review

. 2004 Apr;8(2):198-200.

doi: 10.1016/j.jaapos.2003.07.007.

Ocular findings in geleophysic dysplasia

Xiaoyan Zhang¹, Richard G Boles, Simon K Law, Michael Lin

Affiliations

PMID: 15088061
DOI: 10.1016/j.jaapos.2003.07.007

Review

Ocular findings in geleophysic dysplasia

Xiaoyan Zhang et al. J AAPOS. 2004 Apr.

. 2004 Apr;8(2):198-200.

doi: 10.1016/j.jaapos.2003.07.007.

Authors

Xiaoyan Zhang¹, Richard G Boles, Simon K Law, Michael Lin

Affiliation

¹ Glaucoma Division, Jules Stein Eye Institute, University of California-Los Angeles, 100 Stein Plaza, Los Angeles, CA 90095, USA.

PMID: 15088061
DOI: 10.1016/j.jaapos.2003.07.007

No abstract available

PubMed Disclaimer

Similar articles

Molecular screening of ADAMTSL2 gene in 33 patients reveals the genetic heterogeneity of geleophysic dysplasia.
Allali S, Le Goff C, Pressac-Diebold I, Pfennig G, Mahaut C, Dagoneau N, Alanay Y, Brady AF, Crow YJ, Devriendt K, Drouin-Garraud V, Flori E, Geneviève D, Hennekam RC, Hurst J, Krakow D, Le Merrer M, Lichtenbelt KD, Lynch SA, Lyonnet S, MacDermot K, Mansour S, Megarbané A, Santos HG, Splitt M, Superti-Furga A, Unger S, Williams D, Munnich A, Cormier-Daire V. Allali S, et al. J Med Genet. 2011 Jun;48(6):417-21. doi: 10.1136/jmg.2010.087544. Epub 2011 Mar 17. J Med Genet. 2011. PMID: 21415077 Free PMC article.
Acromicric dysplasia and geleophysic dysplasia: similarities and differences.
Hennekam RC, van Bever Y, Oorthuys JW. Hennekam RC, et al. Eur J Pediatr. 1996 Apr;155(4):311-4. doi: 10.1007/BF02002719. Eur J Pediatr. 1996. PMID: 8777926
[MULIBREY (MUscle, LIver, BRain, EYe) nanism. Report of a new case].
Cáceres Espejo J, Cabello Laureano R, Alvarez Madrid A, León Leal JA, Santos de Soto J, Gil-Fournier Carazo M, Navarro González J. Cáceres Espejo J, et al. An Esp Pediatr. 1992 Aug;37(2):153-4. An Esp Pediatr. 1992. PMID: 1416543 Spanish. No abstract available.
Patients with geleophysic dysplasia are not always geleophysic.
Santolaya JM, Groninga LC, Delgado A, Monasterio JL, Camarero C, Bilbao FJ. Santolaya JM, et al. Am J Med Genet. 1997 Oct 3;72(1):85-90. Am J Med Genet. 1997. PMID: 9295082 Review.
[Geleophysic dwarfism].
Sakazume S. Sakazume S. Ryoikibetsu Shokogun Shirizu. 2001;(33):743-4. Ryoikibetsu Shokogun Shirizu. 2001. PMID: 11462665 Review. Japanese. No abstract available.

See all similar articles

Cited by

Case report: A homozygous ADAMTSL2 missense variant causes geleophysic dysplasia with high similarity to Weill-Marchesani syndrome.
Li M, Li Y, Liu H, Zhou H, Xie W, Peng Q. Li M, et al. Front Genet. 2022 Sep 28;13:1014188. doi: 10.3389/fgene.2022.1014188. eCollection 2022. Front Genet. 2022. PMID: 36246610 Free PMC article.
The lens growth process.
Bassnett S, Šikić H. Bassnett S, et al. Prog Retin Eye Res. 2017 Sep;60:181-200. doi: 10.1016/j.preteyeres.2017.04.001. Epub 2017 Apr 11. Prog Retin Eye Res. 2017. PMID: 28411123 Free PMC article. Review.
Geleophysic dysplasia: novel missense variants and insights into ADAMTSL2 intracellular trafficking.
Piccolo P, Sabatino V, Mithbaokar P, Polishchuck E, Law SK, Magraner-Pardo L, Pons T, Polishchuck R, Brunetti-Pierri N. Piccolo P, et al. Mol Genet Metab Rep. 2019 Sep 5;21:100504. doi: 10.1016/j.ymgmr.2019.100504. eCollection 2019 Dec. Mol Genet Metab Rep. 2019. PMID: 31516831 Free PMC article.
Geleophysic dysplasia associated with bilateral angle closure glaucoma.
Saricaoglu MS, Güven D, Karakurt A, Hasiripi H. Saricaoglu MS, et al. Indian J Ophthalmol. 2013 Mar;61(3):122-4. doi: 10.4103/0301-4738.104401. Indian J Ophthalmol. 2013. PMID: 23514648 Free PMC article.

Publication types

Actions

MeSH terms

Actions
Actions
Actions
Actions
Actions
Actions
Actions
Actions
Actions

LinkOut - more resources

Full Text Sources
- Elsevier Science
Medical
- MedlinePlus Health Information