Phenotypic spectrum of autosomal recessive congenital ichthyosis due to PNPLA1 mutation

被引：20

作者：

Boyden, L. M. ^{[1
]}

Craiglow, B. G. ^{[2
,3
]}

Hu, R. H. ^{[2
]}

Zhou, J. ^{[2
]}

Browning, J. ^{[5
]}

Eichenfield, L. ^{[6
]}

Lim, Y. L. ^{[7
]}

Luu, M. ^{[8
]}

Randolph, L. M. ^{[9
]}

Ginarte, M. ^{[10
]}

Fachal, L. ^{[11
]}

Rodriguez-Pazos, L. ^{[12
]}

Vega, A. ^{[11
]}

Kramer, D. ^{[13
]}

Yosipovitch, G. ^{[14
]}

Vahidnezhad, H. ^{[15
]}

Youssefian, L. ^{[15
]}

Uitto, J. ^{[15
]}

Lifton, R. P. ^{[1
]}

Paller, A. S. ^{[16
]}

Milstone, L. M. ^{[2
]}

Choate, K. A. ^{[1
,2
,4
]}

机构：

[1] Yale Univ, Dept Genet, Sch Med, POB 208059, New Haven, CT 06520 USA

[2] Yale Univ, Dept Dermatol, Sch Med, POB 208059, New Haven, CT 06520 USA

[3] Yale Univ, Dept Pediat, Sch Med, POB 208059, New Haven, CT 06520 USA

[4] Yale Univ, Dept Pathol, Sch Med, POB 208059, New Haven, CT 06520 USA

[5] Baylor Coll Med, Dept Dermatol, San Antonio, TX USA

[6] Univ Calif San Diego, Dept Dermatol, San Diego, CA 92103 USA

[7] Natl Skin Ctr, Dept Dermatol, Singapore, Singapore

[8] Childrens Hosp Los Angeles, Div Dermatol, Los Angeles, CA 90027 USA

[9] Childrens Hosp Los Angeles, Div Med Genet, Los Angeles, CA 90027 USA

[10] Complejo Hosp Univ, Dept Dermatol, Santiago De Compostela, Spain

[11] IDIS, CIBERER, Grp Med Xen USC, Fdn Publ Galega Med Xen SERGAS, Santiago De Compostela, Spain

[12] Complejo Hosp Univ Vigo, Serv Dermatol, Vigo, Spain

[13] Hosp Ninos Luis Calvo Mackenna, Dept Dermatol, Santiago, Chile

[14] Miller Sch Med, Dept Dermatol & Cutaneous Surg, Miami, FL USA

[15] Thomas Jefferson Univ, Dept Dermatol, Sidney Kimmel Med Coll, Philadelphia, PA 19107 USA

[16] Northwestern Univ, Dept Dermatol, Feinberg Sch Med, Chicago, IL 60611 USA

来源：

BRITISH JOURNAL OF DERMATOLOGY | 2017年 / 177卷 / 01期

关键词：

VARIANT;

D O I：

10.1111/bjd.15570

中图分类号：

R75 [皮肤病学与性病学];

学科分类号：

100206 ;

摘要：

引用

页码：319 / 322

页数：4

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