Long-term survival of harlequin ichthyosis in two siblings with novel ABCA12 mutations

被引：0

作者：

Niu, Xuping ^{[1
]}

Li, Xinhua ^{[1
]}

Han, Qixin ^{[1
]}

Hou, Ruixia ^{[1
]}

Zhang, Kaiming ^{[1
]}

机构：

[1] Shanxi Med Univ, Inst Dermatol, Shanxi Key Lab Stem Cells Immunol Dermatosis, Taiyuan Cent Hosp, Taiyuan, Shanxi, Peoples R China

来源：

INTERNATIONAL JOURNAL OF DERMATOLOGY | 2023年 / 62卷 / 12期

关键词：

AUTOAMPUTATION;

D O I：

10.1111/ijd.16812

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：E639 / E641

页数：3

共 50 条

[31] Mutations in ABCA12, a keratinocyte lipid transporter, in harlequin ichthyosis and a functional recovery by corrective gene transfer
Akiyama, M
Sugiyama-Nakagiri, Y
Sakai, K
McMillan, JR
Goto, M
Arita, K
Tsuji-Abe, Y
Tabata, N
Matsuoka, K
Sasaki, R
Sawamura, D
Shimizu, H
JOURNAL OF INVESTIGATIVE DERMATOLOGY, 2005, 124 (04) : A77 - A77
[32] Genetic Counselling and Prenatal Diagnosis in a Case of Harlequin Ichthyosis: A Novel ABCA12 Gene Mutation
Singh, Shreya
Sapkale, Bhagyesh
Chandi, Dhruba
Chaudhari, Kamlesh
JOURNAL OF CLINICAL AND DIAGNOSTIC RESEARCH, 2025, 19 (02) : SD1 - SD4
[33] Harlequin ichthyosis due to novel splice site mutation in the ABCA12 gene: postnatal to prenatal diagnosis
Sheth, Jayesh J.
Bhavsar, Riddhi
Patel, Dhairya
Joshi, Aishwarya
Sheth, Frenny J.
INTERNATIONAL JOURNAL OF DERMATOLOGY, 2018, 57 (04) : 428 - 433
[34] A novel ABCA12 mutant mouse model provides new insight into the pathological mechanisms of Harlequin Ichthyosis
Zhang, L.
Feng, W.
Niswander, L.
Roop, D.
Williams, T.
JOURNAL OF INVESTIGATIVE DERMATOLOGY, 2009, 129 : S78 - S78
[35] Lamellar ichthyosis with a novel mutation in the ABCA12 gene
Latheef, F.
Shareef, M.
Walker, B.
BRITISH JOURNAL OF DERMATOLOGY, 2014, 171 : 122 - 123
[36] A Mouse Model of Harlequin Ichthyosis Delineates a Key Role for Abca12 in Lipid Homeostasis
Smyth, Ian
Hacking, Douglas F.
Hilton, Adrienne A.
Mukhamedova, Nigora
Meikle, Peter J.
Ellis, Sarah
Slattery, Keith
Collinge, Janelle E.
de Graaf, Carolyn A.
Bahlo, Melanie
Sviridov, Dmitri
Kile, Benjamin T.
Hilton, Douglas J.
PLOS GENETICS, 2008, 4 (09):
[37] Case of harlequin ichthyosis in preterm infant with a compound heterozygous ABCA12 missense mutation
Miyazaki, Moeka
Ohkawa, Natsuki
Miyabayashi, Kazuki
Shoji, Hiromichi
Takeichi, Takuya
Kantake, Masato
Akiyama, Masashi
Shimizu, Toshiaki
JOURNAL OF DERMATOLOGY, 2022, 49 (04): : E137 - E139
[38] DNA-based prenatal diagnosis of harlequin ichthyosis with residual ABCA12 expression
Akiyama, M.
Titeux, M.
Sakai, K.
McMillan, J. R.
Tonasso, L.
Calvas, P.
Jossic, F.
Hovnanian, A.
Shimizu, H.
JOURNAL OF INVESTIGATIVE DERMATOLOGY, 2006, 126 : 33 - 33
[39] Identification of novel mutations in the ABCA12 gene, c.1857delA and c.5653-5655delTAT, causing harlequin ichthyosis
Follmann, Johannes
Macchiella, Doris
Whybra, Catharina
Mildenberger, Eva
Poarangan, Cornelia
Zechner, Ulrich
Bartsch, Oliver
GENE, 2013, 531 (02) : 510 - 513
[40] Mutations in the transporter ABCA12 are associated with lamellar ichthyosis type 2
Lefèvre, C
Audebert, S
Jobard, F
Bouadjar, B
Lakhdar, H
Boughdene-Stambouli, O
Blanchet-Bardon, C
Heilig, R
Foglio, M
Weissenbach, J
Lathrop, M
Prud'homme, JF
Fischer, J
HUMAN MOLECULAR GENETICS, 2003, 12 (18) : 2369 - 2378

← 1 2 3 4 5 →