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Severe ipsilateral musculoskeletal involvement in a Cornelia de Lange patient with a novel NIPBL mutation.
Baquero-Montoya, Carolina; Gil-Rodríguez, María-Concepción; Hernández-Marcos, María; Teresa-Rodrigo, María-Esperanza; Vicente-Gabas, Alicia; Bernal, María-Luisa; Casale, Cesar-Horacio; Bueno-Lozano, Gloria; Bueno-Martínez, Inés; Queralt, Ethel; Villa, Olaya; Hernando-Davalillo, Cristina; Armengol, Lluís; Gómez-Puertas, Paulino; Puisac, Beatriz; Selicorni, Angelo; Ramos, Feliciano J; Pié, Juan.
Affiliation
  • Baquero-Montoya C; Unit of Clinical Genetics and Functional Genomics, Departments of Pharmacology- Physiology and Pediatrics, Medical School, University of Zaragoza, Spain; Department of Pediatrics, Hospital Pablo Tobón Uribe, Medellín, Colombia.
  • Gil-Rodríguez MC; Unit of Clinical Genetics and Functional Genomics, Departments of Pharmacology- Physiology and Pediatrics, Medical School, University of Zaragoza, Spain.
  • Hernández-Marcos M; Unit of Clinical Genetics and Functional Genomics, Departments of Pharmacology- Physiology and Pediatrics, Medical School, University of Zaragoza, Spain.
  • Teresa-Rodrigo ME; Unit of Clinical Genetics and Functional Genomics, Departments of Pharmacology- Physiology and Pediatrics, Medical School, University of Zaragoza, Spain.
  • Vicente-Gabas A; Unit of Clinical Genetics and Functional Genomics, Departments of Pharmacology- Physiology and Pediatrics, Medical School, University of Zaragoza, Spain; Service of Pediatrics, Hospital Clínico Universitario "Lozano Blesa", Zaragoza, Spain.
  • Bernal ML; Unit of Clinical Genetics and Functional Genomics, Departments of Pharmacology- Physiology and Pediatrics, Medical School, University of Zaragoza, Spain.
  • Casale CH; Department of Molecular Biology, Sciences School, National University of Río Cuarto, Argentina.
  • Bueno-Lozano G; Service of Pediatrics, Hospital Clínico Universitario "Lozano Blesa", Zaragoza, Spain.
  • Bueno-Martínez I; Unit of Clinical Genetics and Functional Genomics, Departments of Pharmacology- Physiology and Pediatrics, Medical School, University of Zaragoza, Spain; Service of Pediatrics, Hospital Clínico Universitario "Lozano Blesa", Zaragoza, Spain.
  • Queralt E; Cell Cycle Group, Cancer Epigenetics and Biology Program (PEBC), Institut d'Investigacions Biomèdica de Bellvitge (IDIBELL), L'Hospitalet de Llobregat, Barcelona, Spain.
  • Villa O; Quantitative Genomic Medicine Laboratories, Barcelona, Spain.
  • Hernando-Davalillo C; Quantitative Genomic Medicine Laboratories, Barcelona, Spain.
  • Armengol L; Quantitative Genomic Medicine Laboratories, Barcelona, Spain.
  • Gómez-Puertas P; Molecular Modelling Group, Center of Molecular Biology ''Severo Ochoa'' (CSIC-UAM), Cantoblanco, Madrid, Spain.
  • Puisac B; Unit of Clinical Genetics and Functional Genomics, Departments of Pharmacology- Physiology and Pediatrics, Medical School, University of Zaragoza, Spain.
  • Selicorni A; Pediatric Clinic, University of Milano Bicocca, San Gerardo Hospital, Monza, Italy.
  • Ramos FJ; Unit of Clinical Genetics and Functional Genomics, Departments of Pharmacology- Physiology and Pediatrics, Medical School, University of Zaragoza, Spain; Service of Pediatrics, Hospital Clínico Universitario "Lozano Blesa", Zaragoza, Spain.
  • Pié J; Unit of Clinical Genetics and Functional Genomics, Departments of Pharmacology- Physiology and Pediatrics, Medical School, University of Zaragoza, Spain. Electronic address: juanpie@unizar.es.
Eur J Med Genet ; 57(9): 503-9, 2014 Sep.
Article in En | MEDLINE | ID: mdl-24874887
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Phenotype / Proteins / De Lange Syndrome / Musculoskeletal Abnormalities / Mutation Type of study: Prognostic_studies Limits: Humans / Infant / Male Language: En Journal: Eur J Med Genet Journal subject: GENETICA MEDICA Year: 2014 Document type: Article Affiliation country: Colombia Country of publication: Países Bajos
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Phenotype / Proteins / De Lange Syndrome / Musculoskeletal Abnormalities / Mutation Type of study: Prognostic_studies Limits: Humans / Infant / Male Language: En Journal: Eur J Med Genet Journal subject: GENETICA MEDICA Year: 2014 Document type: Article Affiliation country: Colombia Country of publication: Países Bajos