Clinical variability and probable founder effect in oculocutaneous albinism type 7

被引：4

作者：

Bataille, Pauline ^{[1
,2
]}

Michaud, Vincent ^{[3
]}

Robert, Matthieu P. ^{[4
,5
]}

Bekel, Lilia ^{[1
,2
]}

Leclerc-Mercier, Stephanie ^{[6
]}

Harroche, Annie ^{[7
]}

Celerier, Charlotte ^{[8
]}

Lasseaux, Eulalie ^{[3
]}

Borgel, Delphine ^{[7
]}

Bremond-Gignac, Dominique ^{[4
,5
]}

Bodemer, Christine ^{[1
,2
]}

Arveiler, Benoit ^{[3
,9
]}

Hadj-Rabia, Smail ^{[1
,2
]}

机构：

[1] Univ Paris Ctr, Reference Ctr Genodermatoses & Rare Skin Dis MAGE, ERN Skin Hop Necker Enfants Malad, Paris, France

[2] Univ Paris Ctr, Dept Dermatol, ERN Skin Hop Necker Enfants Malad, Filiere Malad Rares Dermatol FIMARAD, Paris, France

[3] CHU Bordeaux, Mol Genet Lab, Bordeaux, France

[4] Univ Paris Ctr, Hop Necker Enfants Malad, APHP, Reference Ctr Rare Ocular Dis OPHTARA, Paris, France

[5] Univ Paris Ctr, Hop Necker Enfants Malad, APHP, Dept Ophthalmol, Paris, France

[6] Univ Paris Ctr, Hop Necker Enfants Malad, APHP, Pathol, Paris, France

[7] Univ Paris Ctr, Hop Necker Enfants Malad, APHP, Hematol, Paris, France

[8] Univ Paris Ctr, Hop Necker Enfants Malad, APHP, Head&Neck Surg, Paris, France

[9] INSERM, Unite U1211, Malad Rares Genet & Metab, Bordeaux, France

来源：

关键词：

CATENIN;

D O I：

10.1111/cge.13655

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

引用

页码：527 / 528

页数：2

共 4 条

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