High rate of autonomic neuropathy in Cornelia de Lange Syndrome.
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| Title: | High rate of autonomic neuropathy in Cornelia de Lange Syndrome. |
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| Authors: | Pablo MJ; Unit of Clinical Genetics and Functional Genomics, Department of Pharmacology-Physiology, School of Medicine, University of Zaragoza, CIBERER-GCV02 and IIS-Aragon, Zaragoza, Spain.; Unit of Neurophysiology, San Jorge University Hospital, Huesca, Spain., Pamplona P; Unit of Clinical Genetics and Functional Genomics, Department of Pharmacology-Physiology, School of Medicine, University of Zaragoza, CIBERER-GCV02 and IIS-Aragon, Zaragoza, Spain.; Unit of Neurophysiology, Miguel Servet University Hospital, Zaragoza, Spain., Haddad M; Unit of Clinical Genetics and Functional Genomics, Department of Pharmacology-Physiology, School of Medicine, University of Zaragoza, CIBERER-GCV02 and IIS-Aragon, Zaragoza, Spain.; Unit of Neurophysiology, Miguel Servet University Hospital, Zaragoza, Spain., Benavente I; Unit of Neurophysiology, San Jorge University Hospital, Huesca, Spain., Latorre-Pellicer A; Unit of Clinical Genetics and Functional Genomics, Department of Pharmacology-Physiology, School of Medicine, University of Zaragoza, CIBERER-GCV02 and IIS-Aragon, Zaragoza, Spain., Arnedo M; Unit of Clinical Genetics and Functional Genomics, Department of Pharmacology-Physiology, School of Medicine, University of Zaragoza, CIBERER-GCV02 and IIS-Aragon, Zaragoza, Spain., Trujillano L; Unit of Clinical Genetics and Functional Genomics, Department of Pharmacology-Physiology, School of Medicine, University of Zaragoza, CIBERER-GCV02 and IIS-Aragon, Zaragoza, Spain.; Unit of Clinical Genetics, Department of Pediatrics, Hospital Clinico Universitario 'Lozano Blesa', CIBERER-GCV02 and IIS-Aragon, Zaragoza, Spain., Bueno-Lozano G; Unit of Clinical Genetics and Functional Genomics, Department of Pharmacology-Physiology, School of Medicine, University of Zaragoza, CIBERER-GCV02 and IIS-Aragon, Zaragoza, Spain.; Department of Pediatrics, Hospital Clinico Universitario 'Lozano Blesa', Growth, Exercise, Nutrition and Development (GENUD) Research Group, Zaragoza, Spain., Kerr LM; Division of Pediatric Neurology, Department of Paediatrics, University of Utah Health, Salt Lake City, UT, USA., Huisman SA; Department of Pediatrics, Amsterdam UMC, Amsterdam, The Netherlands.; Prinsenstichting, Purmerend, The Netherlands., Kaiser FJ; Institute of Human Genetics, University Hospital Essen University of Duisburg-Essen, Essen, Germany., Ramos F; Unit of Clinical Genetics and Functional Genomics, Department of Pharmacology-Physiology, School of Medicine, University of Zaragoza, CIBERER-GCV02 and IIS-Aragon, Zaragoza, Spain.; Unit of Clinical Genetics, Department of Pediatrics, Hospital Clinico Universitario 'Lozano Blesa', CIBERER-GCV02 and IIS-Aragon, Zaragoza, Spain., Kline AD; Harvey Institute of Human Genetics, Greater Baltimore Medical Center, Baltimore, MD, USA., Pie J; Unit of Clinical Genetics and Functional Genomics, Department of Pharmacology-Physiology, School of Medicine, University of Zaragoza, CIBERER-GCV02 and IIS-Aragon, Zaragoza, Spain. juanpie@unizar.es., Puisac B; Unit of Clinical Genetics and Functional Genomics, Department of Pharmacology-Physiology, School of Medicine, University of Zaragoza, CIBERER-GCV02 and IIS-Aragon, Zaragoza, Spain. puisac@unizar.es. |
| Source: | Orphanet journal of rare diseases [Orphanet J Rare Dis] 2021 Oct 30; Vol. 16 (1), pp. 458. Date of Electronic Publication: 2021 Oct 30. |
| Publication Type: | Journal Article; Research Support, Non-U.S. Gov't |
| Journal Info: | Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172 (Electronic) Linking ISSN: 17501172 NLM ISO Abbreviation: Orphanet J Rare Dis Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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