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Mutation of PACS1: the milder end of the spectrum.
Martinez-Monseny, Antonio; Bolasell, Mercè; Arjona, Cesar; Martorell, Loreto; Yubero, Delia; Arsmtrong, Judith; Maynou, Joan; Fernandez, Guerau; Del Carmen Salgado, Maria; Palau, Francesc; Serrano, Mercedes.
Afiliação
  • Martinez-Monseny A; Genetics and Molecular Medicine and Rare Disease Paediatric Unit, Hospital Sant Joan de Déu, Esplugues de Llobregat, Barcelona.
  • Bolasell M; Genetics and Molecular Medicine and Rare Disease Paediatric Unit, Hospital Sant Joan de Déu, Esplugues de Llobregat, Barcelona.
  • Arjona C; Genetics and Molecular Medicine and Rare Disease Paediatric Unit, Hospital Sant Joan de Déu, Esplugues de Llobregat, Barcelona.
  • Martorell L; Genetics and Molecular Medicine and Rare Disease Paediatric Unit, Hospital Sant Joan de Déu, Esplugues de Llobregat, Barcelona.
  • Yubero D; Genetics and Molecular Medicine and Rare Disease Paediatric Unit, Hospital Sant Joan de Déu, Esplugues de Llobregat, Barcelona.
  • Arsmtrong J; Genetics and Molecular Medicine and Rare Disease Paediatric Unit, Hospital Sant Joan de Déu, Esplugues de Llobregat, Barcelona.
  • Maynou J; Genetics and Molecular Medicine and Rare Disease Paediatric Unit, Hospital Sant Joan de Déu, Esplugues de Llobregat, Barcelona.
  • Fernandez G; Genetics and Molecular Medicine and Rare Disease Paediatric Unit, Hospital Sant Joan de Déu, Esplugues de Llobregat, Barcelona.
  • Del Carmen Salgado M; Genetics and Molecular Medicine and Rare Disease Paediatric Unit, Hospital Sant Joan de Déu, Esplugues de Llobregat, Barcelona.
  • Palau F; Genetics and Molecular Medicine and Rare Disease Paediatric Unit, Hospital Sant Joan de Déu, Esplugues de Llobregat, Barcelona.
  • Serrano M; Unit 703 Centre for Biomedical Research on Rare Diseases (CIBER-ER), Instituto de Salud Carlos III, Madrid, Spain.
Clin Dysmorphol ; 27(4): 148-150, 2018 Oct.
Article em En | MEDLINE | ID: mdl-30113927
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Proteínas de Transporte Vesicular / Deficiência Intelectual Limite: Adult / Child / Female / Humans / Male Idioma: En Ano de publicação: 2018 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Proteínas de Transporte Vesicular / Deficiência Intelectual Limite: Adult / Child / Female / Humans / Male Idioma: En Ano de publicação: 2018 Tipo de documento: Article