Novel EDA mutations cause X-linked hypohidrotic ectodermal dysplasia: the first study from Venezuela

被引：0

作者：

Cammarata-Scalisi, Francisco ^{[1
,2
]}

Callea, Michele ^{[3
]}

Chaudhary, Ajay Kumar ^{[4
]}

Cardenas Tadich, Antonio ^{[2
]}

Araya Castillo, Maykol ^{[5
]}

Morabito, Antonino ^{[6
,7
,8
]}

Bellacchio, Emanuele ^{[9
]}

Pisaneschi, Elisa ^{[10
]}

Novelli, Antonio ^{[10
]}

Willoughby, Colin E. ^{[11
]}

Bashyam, Murali Dharan ^{[4
]}

机构：

[1] Univ Los Andes, Unit Genet Med, Dept Childcare Pediat, Merida, Venezuela

[2] Reg Hosp Antofagasta, Serv Pediat, Antofagasta, Chile

[3] Meyer Childrens Hosp IRCCS, Pediat Dent & Special Dent Care unit, Florence, Italy

[4] Ctr DNA Fingerprinting & Diagnost, Lab Mol Oncol, Hyderabad, India

[5] Reg Antofagasta Hosp, Clin Lab, Antofagasta, Chile

[6] Meyer Childrens Hosp IRCCS, Dept Pediat Surg, Florence, Italy

[7] Univ Florence, Dept Neurosci Psychol Drug Res & Child Hlth NEURO, Florence, Italy

[8] Univ Salford, Sch Hlth & Soc, Salford, England

[9] IRCCS, Mol Genet & Funct Genom Res Unit, Bambino Gesu Childrens Hosp, Rome, Italy

[10] IRCCS, Bambino Gesu Childrens Hosp, Translat Cytogen Res Unit, Rome, Italy

[11] Ulster Univ, Biomed Sci Res Inst, Genom Med, Coleraine, North Ireland

来源：

CLINICAL AND EXPERIMENTAL DERMATOLOGY | 2023年 / 48卷 / 12期

关键词：

D O I：

10.1093/ced/llad218

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：1409 / 1413

页数：5

共 50 条

[21] A novel frameshift mutation in the EDA gene in an Iranian patient affected by X-linked hypohidrotic ectodermal dysplasia
Rahbaran, Marzieh
Doabsari, Maryam Hassani
Salavitabar, Simindokht
Mokhberian, Neda
Morovvati, Ziba
Morovvati, Saeid
CELLULAR & MOLECULAR BIOLOGY LETTERS, 2019, 24 (01)
[22] Novel EDA or EDAR Mutations Identified in Patients with X-Linked Hypohidrotic Ectodermal Dysplasia or Non-Syndromic Tooth Agenesis
Zeng, Binghui
Zhao, Qi
Li, Sijie
Lu, Hui
Lu, Jiaxuan
Ma, Lan
Zhao, Wei
Yu, Dongsheng
GENES, 2017, 8 (10):
[23] Novel mutation of EDA causes new asymmetrical X-linked hypohidrotic ectodermal dysplasia phenotypes in a female
Shen, Lu
LIu, Cenying
Gao, Ming
Li, Hongmei
Zhang, Yaowen
Tian, Qi
Ni, Hailun
Peng, Pengwei
Zhao, Rongjuan
Hu, Zhengmao
Gao, Yuan
Xia, Kun
Bo, Qifang
Guo, Hui
JOURNAL OF DERMATOLOGY, 2019, 46 (08): : 731 - 733
[24] HIGH-RESOLUTION MAPPING OF THE X-LINKED HYPOHIDROTIC ECTODERMAL DYSPLASIA (EDA) LOCUS
ZONANA, J
JONES, M
BROWNE, D
LITT, M
KRAMER, P
BECKER, HW
BROCKDORFF, N
RASTAN, S
DAVIES, KP
CLARKE, A
THOMAS, NST
AMERICAN JOURNAL OF HUMAN GENETICS, 1992, 51 (05) : 1036 - 1046
[25] A novel frameshift mutation in the EDA gene in an Iranian patient affected by X-linked hypohidrotic ectodermal dysplasia
Marzieh Rahbaran
Maryam Hassani Doabsari
Simindokht Salavitabar
Neda Mokhberian
Ziba Morovvati
Saeid Morovvati
Cellular & Molecular Biology Letters, 2019, 24
[26] A new mutation in EDA gene in X-linked hypohidrotic ectodermal dysplasia associated with keratoconus
Piccione, M.
Serra, G.
Sanfilippo, C.
Andreucci, E.
Sani, I.
Corsello, G.
MINERVA PEDIATRICA, 2012, 64 (01) : 59 - 64
[27] Two novel ectodysplasin A gene mutations and prenatal diagnosis of X-linked hypohidrotic ectodermal dysplasia
Yu, Kang
Shen, Yihan
Jiang, Cai-Ling
Huang, Wei
Wang, Feng
Wu, Yi-Qun
MOLECULAR GENETICS & GENOMIC MEDICINE, 2021, 9 (11):
[28] 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
[29] IDENTIFYING CARRIERS FOR X-LINKED HYPOHIDROTIC ECTODERMAL DYSPLASIA
PINHEIRO, M
FREIREMAIA, N
LANCET, 1977, 2 (8044): : 936 - 936
[30] CLINICAL ASPECTS OF X-LINKED HYPOHIDROTIC ECTODERMAL DYSPLASIA
CLARKE, A
PHILLIPS, DIM
BROWN, R
HARPER, PS
ARCHIVES OF DISEASE IN CHILDHOOD, 1987, 62 (10) : 989 - 996

← 1 2 3 4 5 →