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| 1 | Rita Xu | + 499 word(s) | 499 | 2020-12-15 07:34:09 |
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Xu, R. Otospondylomegaepiphyseal Dysplasia. Encyclopedia. Available online: https://encyclopedia.pub/entry/4855 (accessed on 23 September 2026).
Xu R. Otospondylomegaepiphyseal Dysplasia. Encyclopedia. Available at: https://encyclopedia.pub/entry/4855. Accessed September 23, 2026.
Xu, Rita. "Otospondylomegaepiphyseal Dysplasia" Encyclopedia, https://encyclopedia.pub/entry/4855 (accessed September 23, 2026).
Xu, R. (2020, December 24). Otospondylomegaepiphyseal Dysplasia. In Encyclopedia. https://encyclopedia.pub/entry/4855
Xu, Rita. "Otospondylomegaepiphyseal Dysplasia." Encyclopedia. Web. 24 December, 2020.
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Otospondylomegaepiphyseal dysplasia (OSMED) is a condition characterized by skeletal abnormalities, distinctive facial features, and severe hearing loss.
genetic conditions
References
- Harel T, Rabinowitz R, Hendler N, Galil A, Flusser H, Chemke J, Gradstein L,Lifshitz T, Ofir R, Elbedour K, Birk OS. COL11A2 mutation associated withautosomal recessive Weissenbacher-Zweymuller syndrome: molecular and clinicaloverlap with otospondylomegaepiphyseal dysplasia (OSMED). Am J Med Genet A. 2005 Jan 1;132A(1):33-5.
- Melkoniemi M, Brunner HG, Manouvrier S, Hennekam R, Superti-Furga A,Kääriäinen H, Pauli RM, van Essen T, Warman ML, Bonaventure J, Miny P, Ala-Kokko L. Autosomal recessive disorder otospondylomegaepiphyseal dysplasia is associatedwith loss-of-function mutations in the COL11A2 gene. Am J Hum Genet. 2000Feb;66(2):368-77.
- Temtamy SA, Männikkö M, Abdel-Salam GM, Hassan NA, Ala-Kokko L, Afifi HH.Oto-spondylo-megaepiphyseal dysplasia (OSMED): clinical and radiological findingsin sibs homozygous for premature stop codon mutation in the COL11A2 gene. Am JMed Genet A. 2006 Jun 1;140(11):1189-95.
- van Steensel MA, Buma P, de Waal Malefijt MC, van den Hoogen FH, Brunner HG.Oto- spondylo-megaepiphyseal dysplasia (OSMED): clinical description of threepatients homozygous for a missense mutation in the COL11A2 gene. Am J Med Genet. 1997 Jun 13;70(3):315-23.
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