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Distal Arthrogryposis type 5 in an Italian family due to an autosomal dominant gain-of-function mutation of the PIEZO2 gene.
Serra, Gregorio; Antona, Vincenzo; Cannata, Chiara; Giuffrè, Mario; Piro, Ettore; Schierz, Ingrid Anne Mandy; Corsello, Giovanni.
Afiliação
  • Serra G; Department of Health Promotion, Mother and Child Care, Internal Medicine and Medical Specialties "G. D'Alessandro", University of Palermo, Palermo, Italy. gregorio.serra@unipa.it.
  • Antona V; Department of Health Promotion, Mother and Child Care, Internal Medicine and Medical Specialties "G. D'Alessandro", University of Palermo, Palermo, Italy.
  • Cannata C; Department of Health Promotion, Mother and Child Care, Internal Medicine and Medical Specialties "G. D'Alessandro", University of Palermo, Palermo, Italy.
  • Giuffrè M; Department of Health Promotion, Mother and Child Care, Internal Medicine and Medical Specialties "G. D'Alessandro", University of Palermo, Palermo, Italy.
  • Piro E; Department of Health Promotion, Mother and Child Care, Internal Medicine and Medical Specialties "G. D'Alessandro", University of Palermo, Palermo, Italy.
  • Schierz IAM; Department of Health Promotion, Mother and Child Care, Internal Medicine and Medical Specialties "G. D'Alessandro", University of Palermo, Palermo, Italy.
  • Corsello G; Department of Health Promotion, Mother and Child Care, Internal Medicine and Medical Specialties "G. D'Alessandro", University of Palermo, Palermo, Italy.
Ital J Pediatr ; 48(1): 133, 2022 Jul 29.
Article em En | MEDLINE | ID: mdl-35906671
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Oftalmoplegia / Contratura Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Humans / Newborn Idioma: En Revista: Ital J Pediatr Assunto da revista: PEDIATRIA Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Itália
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Oftalmoplegia / Contratura Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Humans / Newborn Idioma: En Revista: Ital J Pediatr Assunto da revista: PEDIATRIA Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Itália