Mandibuloacral dysplasia
Definition:
References:
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[1]. Gisele Bonne, et al. LMNA mutations in atypical Werner's syndrome. Lancet. 2003 Nov 8;362(9395):1585-6; author reply 1586. [Content Brief]
[2]. Howard J Worman, et al. "Laminopathies": a wide spectrum of human diseases. Exp Cell Res. 2007 Jun 10;313(10):2121-33. [Content Brief]
[3]. Howard J Worman, et al. Diseases of the nuclear envelope. Cold Spring Harb Perspect Biol. 2010 Feb;2(2):a000760. [Content Brief]
[4]. Katherine N Jacob, et al. Laminopathies: multisystem dystrophy syndromes. Mol Genet Metab. 2006 Apr;87(4):289-302. [Content Brief]
[5]. Rabah Ben Yaou, et al. Type B mandibuloacral dysplasia with congenital myopathy due to homozygous ZMPSTE24 missense mutation. Eur J Hum Genet. 2011 Jun;19(6):647-54. [Content Brief]
[6]. Zahid Ahmad, et al. Early onset mandibuloacral dysplasia due to compound heterozygous mutations in ZMPSTE24. Am J Med Genet A. 2010 Nov;152A(11):2703-10. [Content Brief]
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