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Novel EDA mutations cause X-linked hypohidrotic ectodermal dysplasia: the first study from Venezuela.
Cammarata-Scalisi, Francisco; Callea, Michele; Chaudhary, Ajay Kumar; Tadich, Antonio Cárdenas; Castillo, Maykol Araya; Morabito, Antonino; Bellacchio, Emanuele; Pisaneschi, Elisa; Novelli, Antonio; Willoughby, Colin E; Bashyam, Murali Dharan.
Afiliación
  • Cammarata-Scalisi F; Unit of Genetic Medicine, Department of Childcare Pediatrics, University of Los Andes, Mérida, Venezuela.
  • Callea M; Service of Pediatrics, Regional Hospital of Antofagasta, Antofagasta, Chile.
  • Chaudhary AK; Meyer Children's Hospital IRCCS, Pediatric Dentistry and Special Dental Care unit, Florence, Italy.
  • Tadich AC; Laboratory of Molecular Oncology, Centre for DNA Fingerprinting and Diagnostics, Hyderabad, India.
  • Castillo MA; Service of Pediatrics, Regional Hospital of Antofagasta, Antofagasta, Chile.
  • Morabito A; Clinical Laboratory, Regional of Antofagasta Hospital, Chile.
  • Bellacchio E; Department of Pediatric Surgery, Meyer Children's Hospital IRCCS, Florence, Italy.
  • Pisaneschi E; Department of Neurosciences, Psychology Drug Research and Child Health (NEUROFARBA), University of Florence, Florence, Italy.
  • Novelli A; School of Health and Society, University of Salford, Salford, UK.
  • Willoughby CE; Molecular Genetics and Functional Genomics Research Unit.
  • Bashyam MD; Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
Clin Exp Dermatol ; 48(12): 1409-1413, 2023 11 16.
Article en En | MEDLINE | ID: mdl-37379583

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Displasia Ectodérmica / Displasia Ectodermal Anhidrótica Tipo 1 Límite: Humans País/Región como asunto: America do sul / Venezuela Idioma: En Revista: Clin Exp Dermatol Año: 2023 Tipo del documento: Article País de afiliación: Venezuela

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Displasia Ectodérmica / Displasia Ectodermal Anhidrótica Tipo 1 Límite: Humans País/Región como asunto: America do sul / Venezuela Idioma: En Revista: Clin Exp Dermatol Año: 2023 Tipo del documento: Article País de afiliación: Venezuela