Mandibuloacral dysplasia and a novel LMNA mutation in a woman with severe progressive skeletal changes

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Bibliographic Details
Published inAmerican Journal of Medical Genetics Part A Vol. 143A; no. 21; pp. 2598 - 2603
Main Authors Kosho, Tomoki, Takahashi, Jun, Momose, Takashige, Nakamura, Akinori, Sakurai, Akihiro, Wada, Takahito, Yoshida, Kunihiro, Wakui, Keiko, Suzuki, Takefumi, Kasuga, Kazuo, Nishimura, Gen, Kato, Hiroyuki, Fukushima, Yoshimitsu
Format Report
LanguageEnglish
Published Hoboken Wiley Subscription Services, Inc., A Wiley Company 01.11.2007
Subjects
biochemical markers of bone turnover
bone mineral density
destructive vertebral changes
LMNA
mandibuloacral dysplasia
osteolysis
paraplegia
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Bibliography:The Ministry of Education, Culture, Sports, Science, and Technology
The Ministry of Health, Welfare, and Labor
How to cite this article: Kosho T, Takahashi J, Momose T, Nakamura A, Sakurai A, Wada T, Yoshida K, Wakui K, Suzuki T, Kasuga K, Nishimura G, Kato H, Fukushima Y. 2007. Mandibuloacral dysplasia and a novel LMNA mutation in a woman with severe progressive skeletal changes. Am J Med Genet Part A 143A:2598-2603.
istex:E1534130F7C4464F7FCED814534C2EE26005BDA3
ArticleID:AJMG31983
ark:/67375/WNG-DF54NP48-M
ISSN:1552-4825
1552-4833
DOI:10.1002/ajmg.a.31983