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

Le Huu Doanh, Hoang Thi Phuong,Nguyen Thi Thu Phuong, Le Thi Hoai Thu,Nguyen Van Thuong

JAAD Case Reports(2021)

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关键词
LMNA variant,mandibuloacral dysplasia,progeria
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