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

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