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A novel intronic variant in PIGB in Acrofrontofacionasal dysostosis type 1 patients expands the spectrum of phenotypes associated with GPI biosynthesis defects.
Palagano, Eleonora; Gordon, Christopher T; Uva, Paolo; Strina, Dario; Dimartino, Clémantine; Villa, Anna; Amiel, Jeanne; Guion-Almeida, Maria L; Vendramini-Pittoli, Siulan; Kokitsu-Nakata, Nancy M; Zechi-Ceide, Roseli M; Sobacchi, Cristina.
Afiliación
  • Palagano E; CNR-IRGB, Milan Unit, Milan, Italy; IRCCS Humanitas Research Hospital, Rozzano (MI), Italy.
  • Gordon CT; INSERM UMR1163, Institut Imagine, Université de Paris, Paris, France.
  • Uva P; IRCCS G. Gaslini, Genoa, Italy; Italian Institute of Technology, Genoa, Italy.
  • Strina D; CNR-IRGB, Milan Unit, Milan, Italy; IRCCS Humanitas Research Hospital, Rozzano (MI), Italy.
  • Dimartino C; INSERM UMR1163, Institut Imagine, Université de Paris, Paris, France.
  • Villa A; CNR-IRGB, Milan Unit, Milan, Italy; San Raffaele Telethon Institute for Gene Therapy SR-Tiget, IRCCS San Raffaele Scientific Institute, Milan, Italy.
  • Amiel J; INSERM UMR1163, Institut Imagine, Université de Paris, Paris, France; Service de Génétique, Hôpital Necker-Enfants Malades, AP-HP, Paris, France.
  • Guion-Almeida ML; Department of Clinical Genetics, Hospital for Rehabilitation of Craniofacial Anomalies (HRCA), University of São Paulo, Bauru, Brazil.
  • Vendramini-Pittoli S; Department of Clinical Genetics, Hospital for Rehabilitation of Craniofacial Anomalies (HRCA), University of São Paulo, Bauru, Brazil.
  • Kokitsu-Nakata NM; Department of Clinical Genetics, Hospital for Rehabilitation of Craniofacial Anomalies (HRCA), University of São Paulo, Bauru, Brazil.
  • Zechi-Ceide RM; Department of Clinical Genetics, Hospital for Rehabilitation of Craniofacial Anomalies (HRCA), University of São Paulo, Bauru, Brazil.
  • Sobacchi C; CNR-IRGB, Milan Unit, Milan, Italy; IRCCS Humanitas Research Hospital, Rozzano (MI), Italy. Electronic address: cristina.sobacchi@humanitasresearch.it.
Bone ; 153: 116152, 2021 12.
Article en En | MEDLINE | ID: mdl-34400385
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Glicosilfosfatidilinositoles / Disostosis Mandibulofacial Tipo de estudio: Risk_factors_studies Límite: Humans Idioma: En Revista: Bone Asunto de la revista: METABOLISMO / ORTOPEDIA Año: 2021 Tipo del documento: Article País de afiliación: Italia
Texto completo
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Glicosilfosfatidilinositoles / Disostosis Mandibulofacial Tipo de estudio: Risk_factors_studies Límite: Humans Idioma: En Revista: Bone Asunto de la revista: METABOLISMO / ORTOPEDIA Año: 2021 Tipo del documento: Article País de afiliación: Italia