Novel EDA mutations cause X-linked hypohidrotic ectodermal dysplasia: the first study from Venezuela
Clin Exp Dermatol
.
2023 Nov 16;48(12):1409-1413.
doi: 10.1093/ced/llad218.
Authors
Francisco Cammarata-Scalisi
1
2
,
Michele Callea
3
,
Ajay Kumar Chaudhary
4
,
Antonio Cárdenas Tadich
2
,
Maykol Araya Castillo
5
,
Antonino Morabito
6
7
8
,
Emanuele Bellacchio
9
,
Elisa Pisaneschi
10
,
Antonio Novelli
10
,
Colin E Willoughby
11
,
Murali Dharan Bashyam
4
Affiliations
1
Unit of Genetic Medicine, Department of Childcare Pediatrics, University of Los Andes, Mérida, Venezuela.
2
Service of Pediatrics, Regional Hospital of Antofagasta, Antofagasta, Chile.
3
Meyer Children's Hospital IRCCS, Pediatric Dentistry and Special Dental Care unit, Florence, Italy.
4
Laboratory of Molecular Oncology, Centre for DNA Fingerprinting and Diagnostics, Hyderabad, India.
5
Clinical Laboratory, Regional of Antofagasta Hospital, Chile.
6
Department of Pediatric Surgery, Meyer Children's Hospital IRCCS, Florence, Italy.
7
Department of Neurosciences, Psychology Drug Research and Child Health (NEUROFARBA), University of Florence, Florence, Italy.
8
School of Health and Society, University of Salford, Salford, UK.
9
Molecular Genetics and Functional Genomics Research Unit.
10
Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
11
Genomic Medicine, Biomedical Sciences Research Institute, Ulster University, Coleraine, Northern Ireland.
PMID:
37379583
DOI:
10.1093/ced/llad218
No abstract available
MeSH terms
Ectodermal Dysplasia 1, Anhidrotic* / genetics
Ectodermal Dysplasia* / genetics
Ectodysplasins / genetics
Humans
Mutation
Pedigree
Venezuela
Substances
Ectodysplasins