Variants in the Gene Encoding Filaggrin Cause Autosomal-Dominant Symmetrical Acral Keratoderma

被引：2

作者：

Liu, Chenmei ^{[1
]}

Han, Chunlei ^{[2
]}

Liang, Jingyao ^{[3
]}

Yang, Chao ^{[4
]}

Wang, Youyi ^{[1
]}

Chen, Pingjiao ^{[1
]}

Chen, Hongyu ^{[1
]}

Lu, Hongyan ^{[1
]}

Cai, Yan ^{[1
]}

Wang, Qi ^{[1
]}

Zhang, Xibao ^{[3
]}

Zeng, Kang ^{[1
]}

Li, Changxing ^{[1
]}

机构：

[1] Southern Med Univ, Nanfang Hosp, Dept Dermatol, Guangzhou, Peoples R China

[2] Sixth Peoples Hosp Dongguan, Dept Dermatol, Dongguan, Peoples R China

[3] Guangzhou Inst Dermatol, Dept Dermatol, Guangzhou, Peoples R China

[4] Southern Med Univ, Dermatol Hosp, Dept Dermatol, Guangzhou, Peoples R China

来源：

JOURNAL OF INVESTIGATIVE DERMATOLOGY | 2023年 / 143卷 / 07期

关键词：

DIFFERENTIATION; ACROKERATODERMA; MUTATIONS;

D O I：

10.1016/j.jid.2023.01.010

中图分类号：

R75 [皮肤病学与性病学];

学科分类号：

100206 ;

摘要：

[No abstract available]

引用

页码：1313 / 1317.e8

页数：13

共 50 条

[41] Mutations in LGI1 cause autosomal-dominant partial epilepsy with auditory features
Sergey Kalachikov
Oleg Evgrafov
Barbara Ross
Melodie Winawer
Christie Barker-Cummings
Filippo Martinelli Boneschi
Chang Choi
Pavel Morozov
Kamna Das
Elita Teplitskaya
Andrew Yu
Eftihia Cayanis
Graciela Penchaszadeh
Andreas H. Kottmann
Timothy A. Pedley
W. Allen Hauser
Ruth Ottman
T. Conrad Gilliam
Nature Genetics, 2002, 30 : 335 - 341
[42] Mutations in LGI1 cause autosomal-dominant partial epilepsy with auditory features
Kalachikov, S
Evgrafov, O
Ross, B
Winawer, M
Barker-Cummings, C
Boneschi, FM
Choi, C
Morozov, P
Das, K
Teplitskaya, E
Yu, A
Cayanis, E
Penchaszadeh, G
Kottmann, AH
Pedley, TA
Hauser, WA
Ottman, R
Gilliam, TC
NATURE GENETICS, 2002, 30 (03) : 335 - 341
[43] Ultra-rare variants in the TRPV6 gene cause autosomal dominant chronic pancreatitis
Masson, E.
Chen, J. M.
Rebours, V.
Le Rhun, M.
Audin, H.
Lachaux, A.
Caumont, B.
Lorenzo, D.
Fron, M.
Billiemaz, K.
Besnard, R.
Buscail, L.
Ferec, C.
EUROPEAN JOURNAL OF HUMAN GENETICS, 2020, 28 (SUPPL 1) : 209 - 210
[44] AUTOSOMAL-DOMINANT HYPOALPHALIPOPROTEINEMIA DUE TO A COMPLETELY DEFECTIVE APOLIPOPROTEIN-A-I GENE
NAKATA, K
KOBAYASHI, K
YANAGI, H
SHIMAKURA, Y
TSUCHIYA, S
ARINAMI, T
HAMAGUCHI, H
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, 1993, 196 (02) : 950 - 955
[45] LINKAGE ANALYSIS OF CANDIDATE GENE REGIONS FOR AUTOSOMAL-DOMINANT AND RECESSIVE HEREDITARY CATARACTS
PADMA, T
AYYAGARI, R
MURTY, JS
BASTI, S
RAO, GN
SCOTT, M
WOZENCRAFT, L
KAISERKUPFER, M
HEJTMANCIK, JF
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 1994, 35 (04) : 2114 - 2114
[46] Identification of a novel mutation in the enamalin gene in a family with autosomal-dominant amelogenesis imperfecta
Janeth Gutierrez, Sandra
Chaves, Margarita
Torres, Diana M.
Briceno, Ignacio
ARCHIVES OF ORAL BIOLOGY, 2007, 52 (05) : 503 - 506
[47] Variants in myelin regulatory factor (MYRF) cause autosomal dominant nanophthalmos
Prasov, Lev
Garnai, Sarah J.
Brinkmeier, Michelle
Emery, Ben
Aleman, Tomas S.
Pyle, Louise C.
Veleva-Rotse, Biliana O.
Sisk, Robert
Moroi, Sayoko Eileen
Archer, Steven M.
Wiinikka-Buesser, Laurel
Rozsa, Frank W.
Skuta, Gregory L.
Camper, Sally
Richards, Julia
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2019, 60 (09)
[48] Exclusion of p63 as a candidate gene for autosomal-dominant amelogenesis imperfecta
Gu, XL
Bäckman, B
Coates, PJ
Cullman, I
Hellman, U
Lind, L
Nylander, K
ACTA ODONTOLOGICA SCANDINAVICA, 2006, 64 (02) : 111 - 114
[49] FURTHER SCREENING OF THE RHODOPSIN GENE IN PATIENTS WITH AUTOSOMAL-DOMINANT RETINITIS-PIGMENTOSA
VAITHINATHAN, R
BERSON, EL
DRYJA, TP
GENOMICS, 1994, 21 (02) : 461 - 463
[50] Focal palmoplantar keratoderma caused by an autosomal dominant inherited mutation in the desmoglein 1 gene
Milingou, M
Wood, P
Masouyé, I
McLean, WH
Borradori, L
DERMATOLOGY, 2006, 212 (02) : 117 - 122

← 1 2 3 4 5 →