Identification of a novel frameshift mutation in the EDAR gene causing autosomal dominant hypohidrotic ectodermal dysplasia

被引：7

作者：

Callea, M. ^{[1
]}

Willoughby, C. E. ^{[2
]}

Nieminen, P. ^{[3
]}

Di Stazio, M. ^{[4
]}

Bellacchio, E. ^{[5
]}

Giglio, S. ^{[6
,7
]}

Sani, I. ^{[7
]}

Vinciguerra, A. ^{[1
]}

Maglione, M. ^{[4
]}

Tadini, G. ^{[8
,9
]}

Clarich, G. ^{[1
]}

机构：

[1] IRCCS Burlo Garofolo, Inst Maternal & Child Hlth, Trieste, Italy

[2] Univ Liverpool, Inst Ageing & Chron Dis, Dept Eye & Vis Sci, Liverpool L69 3BX, Merseyside, England

[3] Univ Helsinki, Cent Hosp, Inst Dent, Dept Oral & Maxillofacial Dis, Helsinki, Finland

[4] Univ Trieste, Dept Med Surg & Hlth Sci, Trieste, Italy

[5] Bambino Gesu Pediat Hosp, IRCCS, Res Lab, Rome, Italy

[6] Univ Florence, Med Genet Sect, Dept Clin Pathophysiol, Florence, Italy

[7] Meyer Childrens Univ Hosp, Med Genet Unit, Florence, Italy

[8] Osped Maggiore, Policlin Milano, Fdn IRCCS Ca Granda, Milan, Italy

[9] Univ Milan, Dept Pediat Dermatol, Milan, Italy

来源：

JOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY AND VENEREOLOGY | 2015年 / 29卷 / 05期

关键词：

INTRALYMPHATIC HISTIOCYTOSIS; METAL IMPLANTS;

D O I：

10.1111/jdv.12457

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：1032 / 1034

页数：3

共 50 条

[31] Clinical and molecular study in a family with autosomal dominant hypohidrotic ectodermal dysplasia
Callea, Michele
Cammarata-Scalisi, Francisco
Willoughby, Colin E.
Giglio, Sabrina R.
Sani, Ilaria
Bargiacchi, Sara
Traficante, Giovanna
Bellacchio, Emanuele
Tadini, Gianluca
Yavuz, Izzet
Galeotti, Angela
Clarich, Gabriella
ARCHIVOS ARGENTINOS DE PEDIATRIA, 2017, 115 (01): : E34 - E38
[32] Novel variant in EDA gene causing mild hypohidrotic ectodermal dysplasia in males
Biel, Karolina
Jamsheer, Aleksander
EUROPEAN JOURNAL OF HUMAN GENETICS, 2024, 32 : 998 - 998
[33] A Novel Splicesite Mutation in the EDAR Gene Causes Severe Autosomal Recessive Hypohydrotic (Anhidrotic) Ectodermal Dysplasia in an Iranian Family
Torkamandi, Shahram
Gholami, Milad
Mohammadi-asl, Javad
Rezaie, Somaye
Zaimy, Mohammad Ali
Omrani, Mir Davood
INTERNATIONAL JOURNAL OF MOLECULAR AND CELLULAR MEDICINE, 2016, 5 (04) : 260 - 263
[34] Identification of a novel mutation in the ectodysplasin A gene in a Korean family with X-linked hypohidrotic ectodermal dysplasia
Kim, Ji-Hyun
Lim, In-Seok
Choi, Eung-Sang
Lee, Hye-In
Kim, Beom-Joon
Kim, Myeung-Nam
Lee, Seung-Tae
Kim, Hee-Jin
Kim, Jong-Won
Ki, Chang-Seok
Kim, Beom-Joon
INTERNATIONAL JOURNAL OF DERMATOLOGY, 2011, 50 (11) : 1437 - 1439
[35] Identification of a novel mutation in the EDA gene in a Korean patient with X-linked hypohidrotic ectodermal dysplasia
Kim, Dong Ha
Son, In Pyeong
Lee, Jin Woong
Lee, Hye In
Kim, Ji Hyun
Lim, In Suck
Kim, Beom Joon
Kim, Myeung Nam
JOURNAL OF DERMATOLOGY, 2010, 37 : 103 - 103
[36] A Novel Ectodysplasin a Gene mutation of X-Linked Hypohidrotic Ectodermal Dysplasia
Zhuang, Yuan
Zhang, Ru
Li, Miaomiao
Zou, Yaru
Jiang, Shui
Zhang, Yanan
Liu, Shiguo
Yu, Bo
CLINICAL COSMETIC AND INVESTIGATIONAL DERMATOLOGY, 2024, 17 : 1505 - 1517
[37] A rare case of hypohidrotic ectodermal dysplasia caused by compound heterozygous mutations in the EDAR gene
Shimomura, Y
Sato, N
Miyashita, A
Hashimoto, T
Ito, M
Kuwano, R
JOURNAL OF INVESTIGATIVE DERMATOLOGY, 2004, 123 (04) : 649 - 655
[38] Identified a novel splicing mutation at EDA gene in a hypohidrotic ectodermal dysplasia pedigree
Zhou, Yuan
Yin, Bin
Shi, Bing
Zheng, Li-Wei
Jia, Zhong-Lin
ORAL DISEASES, 2023, 29 (08) : 3164 - 3167
[39] A novel frameshift mutation of the EDA1 gene in a Chinese Han family with X-linked hypohidrotic ectodermal dysplasia
Zhang, H.
Quan, C.
Sun, L. -D.
Lv, H. -L.
Gao, M.
Zhou, F. -S.
Xiao, F. -L.
Fang, Q. -Y.
Shen, Y. -J.
Zhou, L.
Yang, S.
Zhang, X. -J.
CLINICAL AND EXPERIMENTAL DERMATOLOGY, 2009, 34 (01) : 74 - 76
[40] AUTOSOMAL RECESSIVE INHERITANCE OF HYPOHIDROTIC ECTODERMAL DYSPLASIA
KISS, P
TOROK, E
PEDIATRIC DERMATOLOGY, 1990, 7 (03) : 242 - 242

← 1 2 3 4 5 →