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Xu, C. Gnathodiaphyseal Dysplasia. Encyclopedia. Available online: https://encyclopedia.pub/entry/4043 (accessed on 29 September 2026).
Xu C. Gnathodiaphyseal Dysplasia. Encyclopedia. Available at: https://encyclopedia.pub/entry/4043. Accessed September 29, 2026.
Xu, Camila. "Gnathodiaphyseal Dysplasia" Encyclopedia, https://encyclopedia.pub/entry/4043 (accessed September 29, 2026).
Xu, C. (2020, December 23). Gnathodiaphyseal Dysplasia. In Encyclopedia. https://encyclopedia.pub/entry/4043
Xu, Camila. "Gnathodiaphyseal Dysplasia." Encyclopedia. Web. 23 December, 2020.
Gnathodiaphyseal Dysplasia
Edit
This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/gnathodiaphyseal-dysplasia

Gnathodiaphyseal dysplasia is a disorder that affects the bones.

genetic conditions

References

  1. Ahluwalia J, Ly JQ, Norman E, Costello RF Jr, Beall DP. Gnathodiaphysealdysplasia. Clin Imaging. 2007 Jan-Feb;31(1):67-9.
  2. Herman TE, Siegel MJ, Sargar K. Gnathodiaphyseal dysplasia. J Perinatol. 2014 May;34(5):412-4. doi: 10.1038/jp.2013.178.
  3. Marconi C, Brunamonti Binello P, Badiali G, Caci E, Cusano R, Garibaldi J,Pippucci T, Merlini A, Marchetti C, Rhoden KJ, Galietta LJ, Lalatta F, Balbi P,Seri M. A novel missense mutation in ANO5/TMEM16E is causative forgnathodiaphyseal dyplasia in a large Italian pedigree. Eur J Hum Genet. 2013Jun;21(6):613-9. doi: 10.1038/ejhg.2012.224.
  4. Riminucci M, Collins MT, Corsi A, Boyde A, Murphey MD, Wientroub S, Kuznetsov SA, Cherman N, Robey PG, Bianco P. Gnathodiaphyseal dysplasia: a syndrome offibro-osseous lesions of jawbones, bone fragility, and long bone bowing. J BoneMiner Res. 2001 Sep;16(9):1710-8.
  5. Tsutsumi S, Kamata N, Vokes TJ, Maruoka Y, Nakakuki K, Enomoto S, Omura K,Amagasa T, Nagayama M, Saito-Ohara F, Inazawa J, Moritani M, Yamaoka T, Inoue H, Itakura M. The novel gene encoding a putative transmembrane protein is mutated ingnathodiaphyseal dysplasia (GDD). Am J Hum Genet. 2004 Jun;74(6):1255-61.
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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: 659
Entry Collection: MedlinePlus
Revision: 1 time (View History)
Update Date: 23 Dec 2020
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