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| 1 | Camila Xu | + 505 word(s) | 505 | 2020-12-15 07:29:52 |
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Xu, C. Liebenberg Syndrome. Encyclopedia. Available online: https://encyclopedia.pub/entry/4570 (accessed on 26 September 2026).
Xu C. Liebenberg Syndrome. Encyclopedia. Available at: https://encyclopedia.pub/entry/4570. Accessed September 26, 2026.
Xu, Camila. "Liebenberg Syndrome" Encyclopedia, https://encyclopedia.pub/entry/4570 (accessed September 26, 2026).
Xu, C. (2020, December 24). Liebenberg Syndrome. In Encyclopedia. https://encyclopedia.pub/entry/4570
Xu, Camila. "Liebenberg Syndrome." Encyclopedia. Web. 24 December, 2020.
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Liebenberg syndrome is a condition that involves abnormal development of the arms, resulting in characteristic arm malformations that can vary in severity.
genetic conditions
References
- Al-Qattan MM, Al-Thunayan A, Alabdulkareem I, Al Balwi M. Liebenberg syndrome is caused by a deletion upstream to the PITX1 gene resulting in transformation ofthe upper limbs to reflect lower limb characteristics. Gene. 2013 Jul15;524(1):65-71. doi: 10.1016/j.gene.2013.03.120.
- DeLaurier A, Schweitzer R, Logan M. Pitx1 determines the morphology of muscle,tendon, and bones of the hindlimb. Dev Biol. 2006 Nov 1;299(1):22-34.
- Duboc V, Logan MP. Pitx1 is necessary for normal initiation of hindlimboutgrowth through regulation of Tbx4 expression and shapes hindlimb morphologies via targeted growth control. Development. 2011 Dec;138(24):5301-9. doi:10.1242/dev.074153.
- Seoighe DM, Gadancheva V, Regan R, McDaid J, Brenner C, Ennis S, Betts DR,Eadie PA, Lynch SA. A chromosomal 5q31.1 gain involving PITX1 causes Liebenbergsyndrome. Am J Med Genet A. 2014 Nov;164A(11):2958-60. doi: 10.1002/ajmg.a.36712.
- Spielmann M, Brancati F, Krawitz PM, Robinson PN, Ibrahim DM, Franke M, Hecht J, Lohan S, Dathe K, Nardone AM, Ferrari P, Landi A, Wittler L, Timmermann B,Chan D, Mennen U, Klopocki E, Mundlos S. Homeotic arm-to-leg transformationassociated with genomic rearrangements at the PITX1 locus. Am J Hum Genet. 2012Oct 5;91(4):629-35. doi: 10.1016/j.ajhg.2012.08.014.
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