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Yang, C. Acromicric Dysplasia. Encyclopedia. Available online: https://encyclopedia.pub/entry/4397 (accessed on 27 September 2026).
Yang C. Acromicric Dysplasia. Encyclopedia. Available at: https://encyclopedia.pub/entry/4397. Accessed September 27, 2026.
Yang, Catherine. "Acromicric Dysplasia" Encyclopedia, https://encyclopedia.pub/entry/4397 (accessed September 27, 2026).
Yang, C. (2020, December 23). Acromicric Dysplasia. In Encyclopedia. https://encyclopedia.pub/entry/4397
Yang, Catherine. "Acromicric Dysplasia." Encyclopedia. Web. 23 December, 2020.
Acromicric Dysplasia
Edit
This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/acromicric-dysplasia

Acromicric dysplasia is a condition characterized by severely short stature, short limbs, stiff joints, and distinctive facial features.

genetic conditions

References

  1. Faivre L, Le Merrer M, Baumann C, Polak M, Chatelain P, Sulmont V, Cousin J,Bost M, Cordier MP, Zackai E, Russell K, Finidori G, Pouliquen JC, Munnich A,Maroteaux P, Cormier-Daire V. Acromicric dysplasia: long term outcome andevidence of autosomal dominant inheritance. J Med Genet. 2001 Nov;38(11):745-9.
  2. Klein C, Le Goff C, Topouchian V, Odent S, Violas P, Glorion C, Cormier-Daire V. Orthopedics management of acromicric dysplasia: follow up of nine patients. AmJ Med Genet A. 2014 Feb;164A(2):331-7. doi: 10.1002/ajmg.a.36139.
  3. Le Goff C, Mahaut C, Wang LW, Allali S, Abhyankar A, Jensen S, Zylberberg L,Collod-Beroud G, Bonnet D, Alanay Y, Brady AF, Cordier MP, Devriendt K, GenevieveD, Kiper PÖ, Kitoh H, Krakow D, Lynch SA, Le Merrer M, Mégarbane A, Mortier G,Odent S, Polak M, Rohrbach M, Sillence D, Stolte-Dijkstra I, Superti-Furga A,Rimoin DL, Topouchian V, Unger S, Zabel B, Bole-Feysot C, Nitschke P, Handford P,Casanova JL, Boileau C, Apte SS, Munnich A, Cormier-Daire V. Mutations in theTGFβ binding-protein-like domain 5 of FBN1 are responsible for acromicric andgeleophysic dysplasias. Am J Hum Genet. 2011 Jul 15;89(1):7-14. doi:10.1016/j.ajhg.2011.05.012.
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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 : Catherine Yang
View Times: 831
Entry Collection: MedlinePlus
Revision: 1 time (View History)
Update Date: 23 Dec 2020
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