Mandibuloacral dysplasia type A.
作者信息
Dahake Urmila, Bang Akash, Choudhary Abhijit, Jain Shikha
机构信息
Department of Pediatrics, All India Institute of Medical Sciences, Nagpur, Maharashtra, India
Department of Pediatrics, All India Institute of Medical Sciences, Nagpur, Maharashtra, India.
出版信息
BMJ Case Rep. 2024 May 6;17(5):e260013. doi: 10.1136/bcr-2024-260013.
Abstract
摘要
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本文引用的文献
1
Mandibuloacral dysplasia type A-associated progeria caused by homozygous LMNA mutation in a family from Southern China.
BMC Pediatr. 2014 Oct 7;14:256. doi: 10.1186/1471-2431-14-256.
2
Mandibuloacral dysplasia type A in childhood.
Am J Med Genet A. 2009 Oct;149A(10):2258-64. doi: 10.1002/ajmg.a.33005.
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Mandibuloacral dysplasia is caused by a mutation in LMNA-encoding lamin A/C.
Am J Hum Genet. 2002 Aug;71(2):426-31. doi: 10.1086/341908. Epub 2002 Jun 19.
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