Keratitis-Ichthyosis-Deafness Syndrome Caused by GJB2 Maternal Mosaicism

被引：18
|
作者：
Titeux, Matthias [1 ,2 ]
Mendonca, Vanessa [3 ]
Decha, Audrey [1 ,2 ]
Moreira, Elisabete [4 ]
Magina, Sofia [4 ,5 ]
Maia, Ana [3 ]
Lacaze-Buzy, Laetitia [6 ,7 ]
Mejia, Jose Enrique [1 ,2 ]
Torrao, Luis [8 ,9 ]
Carvalho, Filipa [10 ]
Eca-Guimaraes, Julia [3 ,11 ]
Hovnanian, Alain [1 ,2 ,6 ,7 ]
机构：
[1] Fac Med Toulouse, INSERM, U563, F-31073 Toulouse, France
[2] Univ Toulouse 3, F-31062 Toulouse, France
[3] Hosp Sao Joao Porto, Dept Pediat, Oporto, Portugal
[4] Hosp Sao Joao Porto, Dept Dermatol & Venerol, Oporto, Portugal
[5] Univ Porto, Sch Med, Inst Pharmacol & Therapeut, P-4100 Oporto, Portugal
[6] Reference Ctr Rare Skin Dis, Toulouse, France
[7] Hop Purpan, CHU Toulouse, Dept Med Genet, Toulouse, France
[8] Hosp Sao Joao Porto, Dept Ophthalmol, Oporto, Portugal
[9] Univ Porto, Sch Med, Dept Ophthalmol, P-4100 Oporto, Portugal
[10] Univ Porto, Sch Med, Dept Genet, P-4100 Oporto, Portugal
[11] Univ Porto, Sch Med, Dept Pediat, P-4100 Oporto, Portugal
来源：
JOURNAL OF INVESTIGATIVE DERMATOLOGY | 2009年 / 129卷 / 03期
关键词：
KID SYNDROME; NEUROFIBROMATOSIS TYPE-1; SOMATIC MUTATION; DISEASE; DISORDERS; GENE; SKIN;
D O I：
10.1038/jid.2008.312
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：776 / 779
页数：5
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