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Mandibuloacral Dysplasia in a Young Vietnamese Girl Caused by Homozygous Missense Variant C.1579C>T in the LMNA Gene with Progeria and Severe Skin Lesions

Overview
Journal JAAD Case Rep
Specialty Dermatology
Date 2021 Sep 10
PMID 34504925
Citations 2
Authors
Le Huu Doanh
Hoang Thi Phuong
Nguyen Thi Thu Phuong
Le Thi Hoai Thu
Nguyen Van Thuong
Affiliations
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References
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Simha V, Garg A . Body fat distribution and metabolic derangements in patients with familial partial lipodystrophy associated with mandibuloacral dysplasia. J Clin Endocrinol Metab. 2002; 87(2):776-85. DOI: 10.1210/jcem.87.2.8258. View
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Shen J, Brown C, Lupski J, Potocki L . Mandibuloacral dysplasia caused by homozygosity for the R527H mutation in lamin A/C. J Med Genet. 2003; 40(11):854-7. PMC: 1735303. DOI: 10.1136/jmg.40.11.854. View
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Novelli G, Muchir A, Sangiuolo F, Helbling-Leclerc A, DApice M, Massart C . Mandibuloacral dysplasia is caused by a mutation in LMNA-encoding lamin A/C. Am J Hum Genet. 2002; 71(2):426-31. PMC: 379176. DOI: 10.1086/341908. View
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Xiong Z, Lu Y, Xue J, Luo S, Xu X, Zhang L . Hutchinson-Gilford progeria syndrome accompanied by severe skeletal abnormalities in two Chinese siblings: two case reports. J Med Case Rep. 2013; 7:63. PMC: 3602076. DOI: 10.1186/1752-1947-7-63. View