Novel PNPLA1 mutations in two Italian siblings with autosomal recessive congenital ichthyosis

被引：8

作者：

Diociaiuti, A. ^{[1
]}

Pisaneschi, E. ^{[2
]}

Zambruno, G. ^{[1
]}

Angioni, A. ^{[2
]}

Novelli, A. ^{[2
]}

Boldrini, R. ^{[3
]}

El Hachem, M. ^{[1
]}

机构：

[1] Bambino Gesu Pediat Hosp, IRCCS, Dermatol Unit, Rome, Italy

[2] Bambino Gesu Pediat Hosp, Mol Genet Lab, IRCCS, Rome, Italy

[3] Bambino Gesu Pediat Hosp, Dept Pathol, IRCCS, Rome, Italy

来源：

JOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY AND VENEREOLOGY | 2018年 / 32卷 / 03期

关键词：

PHENOTYPIC SPECTRUM; BARRIER; VARIANT; HUMANS; MICE;

D O I：

10.1111/jdv.14618

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：E110 / E112

页数：3

共 50 条

[41] Two missense mutations in CYP4F22 in autosomal recessive congenital ichthyosis
Feng, C.
Wang, H.
Lee, M.
Zhao, J.
Lin, Z.
Yang, Y.
CLINICAL AND EXPERIMENTAL DERMATOLOGY, 2017, 42 (01) : 98 - 100
[42] Novel Compound Heterozygous Mutations in CERS3 Cause Autosomal Recessive Congenital Ichthyosis
Kirchmeier, P.
Oji, V.
Schlipf, N.
Hodler, C.
Zeschnigk, C.
Fischer, J.
JOURNAL DER DEUTSCHEN DERMATOLOGISCHEN GESELLSCHAFT, 2014, 12 : 21 - 22
[43] Transglutaminase-1 Gene Mutations in Autosomal Recessive Congenital Ichthyosis: Summary of Mutations (Including 23 Novel) and Modeling of TGase-1
Herman, Matthew L.
Farasat, Sharifeh
Steinbach, Peter J.
Wei, Ming-Hui
Toure, Ousmane
Fleckman, Philip
Blake, Patrick
Bale, Sherri J.
Toro, Jorge R.
HUMAN MUTATION, 2009, 30 (04) : 537 - 547
[44] CLDN1 is associated with autosomal recessive congenital ichthyosis
Mohamad, J.
Samuelov, L.
Assaf, S.
Malki, L.
Malovitski, K.
Adir, N.
Granot, E.
Pavlovsky, M.
Sarig, O.
Sprecher, E.
JOURNAL OF INVESTIGATIVE DERMATOLOGY, 2022, 142 (12) : S227 - S227
[45] Spectrum of Autosomal Recessive Congenital Ichthyosis in Scandinavia: Clinical Characteristics and Novel and Recurrent Mutations in 132 Patients
Hellstrom Pigg, Maritta
Bygum, Anette
Ganemo, Agneta
Virtanen, Marie
Brandrup, Flemming
Zimmer, Andreas D.
Hotz, Alrun
Vahlquist, Anders
Fischer, Judith
ACTA DERMATO-VENEREOLOGICA, 2016, 96 (07) : 932 - +
[46] A Novel Mutation in the Transglutaminase-1 Gene in an Autosomal Recessive Congenital Ichthyosis Patient
Vaigundan, D.
Kalmankar, Neha V.
Krishnappa, J.
Gowda, N. Yellappa
Kutty, A. V. M.
Krishnaswamy, Patnam R.
BIOMED RESEARCH INTERNATIONAL, 2014, 2014
[47] Mutations in CERS3 Cause Autosomal Recessive Congenital Ichthyosis in Humans
Radner, Franz P. W.
Marrakchi, Slaheddine
Kirchmeier, Peter
Kim, Gwang-Jin
Ribierre, Florence
Kamoun, Bourane
Abid, Leila
Leipoldt, Michael
Turki, Hamida
Schempp, Werner
Heilig, Roland
Lathrop, Mark
Fischer, Judith
PLOS GENETICS, 2013, 9 (06):
[48] Identification of a novel causative gene responsible for autosomal recessive congenital ichthyosis
Shigehara, Y.
Okuda, S.
Hayashi, R.
Nakai, H.
Abe, R.
Kibbi, A. Ghani
Kurban, M.
Shimomura, Y.
JOURNAL OF INVESTIGATIVE DERMATOLOGY, 2017, 137 (05) : S85 - S85
[49] Nail involvement in autosomal recessive congenital ichthyosis
Zaouak, Anissa
Chamli, Amal
Ben Mansour, Nadia
Jouini, Wafa
Fenniche, Samy
Hammami, Houda
CLINICS IN DERMATOLOGY, 2022, 40 (04) : 388 - 394
[50] Intragenic PNPLA1 duplication in Labrador retrievers with nonepidermolytic ichthyosis
Rietmann, Stefan J.
Clegg, Jennifer L.
Jagannathan, Vidhya
Wiener, Dominique J.
Kallenberg, Angelica
Grahn, Robert A.
Souza, Clarissa P.
Leeb, Tosso
VETERINARY DERMATOLOGY, 2025,

← 1 2 3 4 5 →