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p.Pro4Arg mutation in LMNA gene: a new atypical progeria phenotype without metabolism abnormalities
Authors:Hong Guo  Na Luo  Fei Hao  Yun Bai
Institution:1. Department of Medical Genetics, College of Basic Medical Science, Third Military Medical University, Chongqing 400038, PR China;2. Department of Dermatology, Southwest Hospital, Third Military Medical University, Chongqing 400038, PR China
Abstract:
Keywords:HGPS  Hutchinson&ndash  Gilford progeria syndrome  LMNA  lamin A/C  APS  atypical progeroid syndrome  MAD  mandibuloacral dysplasia
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