Novel clinical features associated with Clouston syndrome
Int J Dermatol
.
2019 Aug;58(8):e143-e146.
doi: 10.1111/ijd.14507.
Epub 2019 Jun 5.
Authors
Francisco Cammarata-Scalisi
1
,
Martina Rinelli
2
,
Elisa Pisaneschi
2
,
Andrea Diociaiuti
3
,
Colin E Willoughby
4
,
Andrea Avendaño
1
,
Maria C Digilio
5
,
Antonio Novelli
2
,
Michele Callea
6
Affiliations
1
Unit of Medical Genetics, Department of Pediatrics, Faculty of Medicine, University of the Andes, Merida, Venezuela.
2
Medical Genetics Laboratory, Bambino Gesù Children Hospital and Research Institute, Rome, Italy.
3
Dermatology Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
4
Biomedical Sciences Research Institute, Ulster University, Northern Ireland, UK.
5
Department of Medical Genetics and Rare Diseases, Bambino Gesù Children Hospital and Research Institute, Rome, Italy.
6
Unit of Dentistry, Bambino Gesù Children Hospital and Research Institute, Rome, Italy.
PMID:
31165482
DOI:
10.1111/ijd.14507
No abstract available
Publication types
Case Reports
Letter
MeSH terms
Child, Preschool
Connexin 30 / genetics*
Ectodermal Dysplasia / diagnosis*
Ectodermal Dysplasia / genetics
Humans
Male
Phenotype*
Substances
Connexin 30
GJB6 protein, human