首页> American journal of medical genetics. Part A> Variable pulmonary manifestations in Chitayat syndrome: Six additional affected individuals.

Variable pulmonary manifestations in Chitayat syndrome: Six additional affected individuals.

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第一作者： Aude-Annick,Suter

第一单位： Institute of Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, Berlin, Germany.

作者： Aude-Annick,Suter ^[1] ; Fernando,Santos-Simarro ^[2] ; Pernille Mathiesen,Toerring ^[3] ; Angela,Abad Perez ^[1] ; Rosario,Ramos-Mejia ^[4] ; Karen E,Heath ^[2] ; Victoria,Huckstadt ^[5] ; Manuel,Parrón-Pajares ^[6] ; Martin Atta,Mensah ^[7] ; Wiebke,Hülsemann ^[8] ; Manuel,Holtgrewe ^[9] ; Stefan,Mundlos ^[10] ; Uwe,Kornak ^[11] ; Oliver,Bartsch ^[12] ; Nadja,Ehmke ^[10]

作者单位： Institute of Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, Berlin, Germany. ^[1] Institute of Medical and Molecular Genetics (INGEMM) and Skeletal dysplasia multidisciplinary Unit (UMDE), Hospital Universitario La Paz and CIBERER, ISCIII, Madrid, Spain. ^[2] Department of Clinical Genetics, Odense University Hospital, Odense, Denmark. ^[3] Department of Growth and Development, Garrahan Hospital, Buenos Aires, Argentina. ^[4] Department of Genetics, Garrahan Hospital, Buenos Aires, Argentina. ^[5] Department of Radiology and Skeletal dysplasia multidisciplinary Unit (UMDE), Hospital Universitario la Paz, Madrid, Spain. ^[6] Institute of Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, Berlin, Germany.;Berlin Institute of Health (BIH), Berlin, Germany. ^[7] Handchirurgie Kinderkrankenhaus Wilhelmstift, Hamburg, Germany. ^[8] Core Unit Bioinformatics - CUBI, Berlin Institute of Health (BIH), Berlin, Germany. ^[9] Institute of Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, Berlin, Germany.;RG Development & Disease, Max Planck Institute for Molecular Genetics, Berlin, Germany. ^[10] Institute of Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, Berlin, Germany.;Institute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany. ^[11] Institute of Human Genetics, University Medical Centre of the Johannes Gutenberg University Mainz, Mainz, Germany. ^[12]

关键词 Chitayat syndrome ERF bronchomalacia hyperphalangism respiratory distress ulnar deviation