Focal dermal hypoplasia (goltz–gorlin syndrome): A new case with a novel variant in the PORCN gene (c.1250T>C:p.F417S) and unusual spinal anomaly期刊界 All Journals 搜尽天下杂志传播学术成果专业期刊搜索期刊信息化学术搜索

Focal dermal hypoplasia (goltz–gorlin syndrome): A new case with a novel variant in the PORCN gene (c.1250T>C:p.F417S) and unusual spinal anomaly

Authors:	Livia Garavelli Graziella Simonte Simonetta Rosato Anita Wischmeijer Enrico Albertini Elisa Guareschi Caterina Longo Giuseppe Albertini Chiara Gelmini Chiara Greco Stefania Errico Gustavo Savino Marco Pavanello Rudolf Happle Sheila Unger Andrea Superti‐Furga Karl‐Heinz Grzeschik

Affiliation:	1. Clinical Genetics Unit, Obstetric and Pediatric Department, Istituto di Ricovero e Cura a Carattere Scientifico, Arcispedale Santa Maria Nuova, , Reggio Emilia, Italy;2. Institute of Medical Genetics, University Hospital S. Orsola‐Malpighi, , Bologna, Italy;3. DDS, Department of Orthodontics, University of Ferrara, , Italy;4. Department of Dermatology, Istituto di Ricovero e Cura a Carattere Scientifico, Arcispedale Santa Maria Nuova, , Reggio Emilia, Italy;5. Department of Ophthalmology, Catholic University, , Rome, Italy;6. Department of Neurosurgery, Giannina Gaslini Institute, , Genova, Italy;7. Department of Dermatology, Freiburg University Medical Center, , Freiburg, Germany;8. Medical Genetics Service, Centre Hospitalier Universitaire Vaudois, , Lausanne, Switzerland;9. Department of Pediatrics, Centre Hospitalier Universitaire Vaudois, University of Lausanne, , Switzerland;10. Institute of Human Genetics, Philipp University Marburg, , Germany

Abstract:

Keywords:	focal dermal hypoplasia FDH Goltz– Gorlin syndrome PORCN gene cystic malformation of the spinal cord

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