Skin biopsy is helpful in the diagnosis of hereditary fibrosing POIKiloderma with tendon contractures, myopathy and pulmonary fibrosis, due to FAM111B mutation

被引:3
|
作者
Leclerc-Mercier, S. [1 ,2 ]
Mercier, S. [3 ,4 ]
Bellon, N. [5 ]
Hadj-Rabia, S. [5 ]
Bodemer, C. [5 ]
Hoeger, P. [6 ,7 ]
Barbarot, S. [8 ]
Fraitag, S. [1 ,2 ]
机构
[1] Paris Ctr Univ, Necker Enfants Malades Hosp, Dept Pathol, Paris, France
[2] Paris Ctr Univ, Necker Enfants Malades Hosp, Reference Ctr Genodermatoses, MAGEC Ctr, Paris, France
[3] CHU Nantes, Ctr Reference Malad Neuromusculaires AOC, Serv Genet Med, Nantes, France
[4] Univ Nantes, CNRS, INSERM, Inst Thorax, Nantes, France
[5] Paris Ctr Univ, Necker Enfants Malades Hosp, Reference Ctr MAGEC, Dermatol Dept, Paris, France
[6] Catholic Childrens Hosp Wilhelmstift, Dept Paediat, Hamburg, Germany
[7] Catholic Childrens Hosp Wilhelmstift, Dept Paediat Dermagol, Hamburg, Germany
[8] CHU Nantes, Clin Dermatol, Hotel Dieu, Pl Alexis Ricordeau, Nantes, France
关键词
D O I
10.1111/jdv.17937
中图分类号
R75 [皮肤病学与性病学];
学科分类号
100206 ;
摘要
引用
收藏
页码:E439 / E441
页数:3
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