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Neurogenetics
Original article
From gestalt to gene: early predictive dysmorphic features of PMM2-CDG

Authors

  • Antonio Martinez-Monseny Genetics and Molecular Medicine Department and Pediatric Institute of Rare Diseases (IPER), Hospital Sant Joan de Déu, Barcelona, Spain PubMed articlesGoogle scholar articles
  • Daniel Cuadras Statistics Department, Fundació Sant Joan de Déu, Barcelona, Spain PubMed articlesGoogle scholar articles
  • Mercè Bolasell Genetics and Molecular Medicine Department and Pediatric Institute of Rare Diseases (IPER), Hospital Sant Joan de Déu, Barcelona, Spain PubMed articlesGoogle scholar articles
  • Jordi Muchart Neuropediatric, Radiology and Clinical Biochemistry Departments, Institut de Recerca Sant Joan de Déu, Barcelona, Spain U-703 Centre for Biomedical Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Barcelona, Spain PubMed articlesGoogle scholar articles
  • César Arjona Genetics and Molecular Medicine Department and Pediatric Institute of Rare Diseases (IPER), Hospital Sant Joan de Déu, Barcelona, Spain PubMed articlesGoogle scholar articles
  • Mar Borregan Genetics and Molecular Medicine Department and Pediatric Institute of Rare Diseases (IPER), Hospital Sant Joan de Déu, Barcelona, Spain PubMed articlesGoogle scholar articles
  • Adi Algrabli Face2gene, FDNA Inc, Boston, Massachusetts, USA PubMed articlesGoogle scholar articles
  • Raquel Montero Neuropediatric, Radiology and Clinical Biochemistry Departments, Institut de Recerca Sant Joan de Déu, Barcelona, Spain U-703 Centre for Biomedical Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Barcelona, Spain PubMed articlesGoogle scholar articles
  • Rafael Artuch Neuropediatric, Radiology and Clinical Biochemistry Departments, Institut de Recerca Sant Joan de Déu, Barcelona, Spain U-703 Centre for Biomedical Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Barcelona, Spain PubMed articlesGoogle scholar articles
  • Ramón Velázquez-Fragua Pediatric Neurology Department, Hospital Universitario La Paz, Madrid, Spain PubMed articlesGoogle scholar articles
  • Alfons Macaya Secció de Neurologia Pediàtrica, Grup de Recerca en Neurologia Pediàtrica, Institut de Recerca Vall d’Hebron, Universitat Autònoma de Barcelona, Hospital Universitari Vall d’Hebron, Barcelona, Spain PubMed articlesGoogle scholar articles
  • Celia Pérez-Cerdá Centro de Diagnóstico de Enfermedades Moleculares (CEDEM), Universidad Autónoma de Madrid (UAM), U-746 Centre for Biomedical Research on Rare Diseases (CIBERER) Madrid, Instituto de Salud Carlos III, Madrid, Spain PubMed articlesGoogle scholar articles
  • Belén Pérez-Dueñas Secció de Neurologia Pediàtrica, Grup de Recerca en Neurologia Pediàtrica, Institut de Recerca Vall d’Hebron, Universitat Autònoma de Barcelona, Hospital Universitari Vall d’Hebron, Barcelona, Spain PubMed articlesGoogle scholar articles
  • Belén Pérez Centro de Diagnóstico de Enfermedades Moleculares (CEDEM), Universidad Autónoma de Madrid (UAM), U-746 Centre for Biomedical Research on Rare Diseases (CIBERER) Madrid, Instituto de Salud Carlos III, Madrid, Spain PubMed articlesGoogle scholar articles
  • Mercedes Serrano Genetics and Molecular Medicine Department and Pediatric Institute of Rare Diseases (IPER), Hospital Sant Joan de Déu, Barcelona, Spain Neuropediatric, Radiology and Clinical Biochemistry Departments, Institut de Recerca Sant Joan de Déu, Barcelona, Spain U-703 Centre for Biomedical Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Barcelona, Spain PubMed articlesGoogle scholar articles
  • the CDG Spanish Consortium
    Google scholar articles
  1. Correspondence to Dr Antonio Martinez-Monseny, Genetics and Molecular Medicine Deparment and Pediatric Institute of Rare Diseases (IPER), Hospital Sant Joan de Déu, Barcelona, 08950, Spain; afmartinez{at}sjdhospitalbarcelona.org and Dr. Mercedes Serrano, Genetics and Molecular Medicine Department and Pediatric Institute of Rare Diseases (IPER) Hospital Sant Joan de Déu, Barcelona, 08950, Spain; mserrano{at}sjdhospitalbarcelona.org
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Citation

Martinez-Monseny A, Cuadras D, Bolasell M the CDG Spanish Consortium, et al
From gestalt to gene: early predictive dysmorphic features of PMM2-CDG
Journal of Medical Genetics 2019;56:236-245.

Publication history

  • Received July 12, 2018
  • Revised October 22, 2018
  • Accepted October 24, 2018
  • First published November 21, 2018.
Online issue publication 
March 22, 2019

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© Author(s) (or their employer(s)) 2019. No commercial re-use. See rights and permissions. Published by BMJ.