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Xq27.1 palindrome mediated interchromosomal insertion likely causes familial congenital bilateral laryngeal abductor paralysis (Plott syndrome).
Boschann, Felix; Moreno, Daniel Acero; Mensah, Martin A; Sczakiel, Henrike L; Skipalova, Karolina; Holtgrewe, Manuel; Mundlos, Stefan; Fischer-Zirnsak, Björn.
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  • Boschann F; Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Institute of Medical Genetics and Human Genetics, Berlin, Germany. felix.boschann@charite.de.
  • Moreno DA; Division of Pediatric Critical Care Medicine, Kliniken der Stadt Köln gGmbH, Cologne, Germany.
  • Mensah MA; Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Institute of Medical Genetics and Human Genetics, Berlin, Germany.
  • Sczakiel HL; Clinician Scientist Program, Berlin Institute of Health at Charité - Universitätsmedizin Berlin, BIH Academy, Berlin, Germany.
  • Skipalova K; Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Institute of Medical Genetics and Human Genetics, Berlin, Germany.
  • Holtgrewe M; Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Institute of Medical Genetics and Human Genetics, Berlin, Germany.
  • Mundlos S; Core Facility Bioinformatics, Berlin Institute of Health Charité - Universitätsmedizin Berlin, Berlin, Germany.
  • Fischer-Zirnsak B; Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Institute of Medical Genetics and Human Genetics, Berlin, Germany.
J Hum Genet ; 67(7): 405-410, 2022 Jul.
Article en En | MEDLINE | ID: mdl-35095096
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Parálisis de los Pliegues Vocales / Enfermedades Genéticas Ligadas al Cromosoma X / Discapacidad Intelectual Tipo de estudio: Etiology_studies / Prognostic_studies Límite: Humans / Male / Newborn Idioma: En Revista: J Hum Genet Asunto de la revista: GENETICA MEDICA Año: 2022 Tipo del documento: Article País de afiliación: Alemania
Texto completo
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Parálisis de los Pliegues Vocales / Enfermedades Genéticas Ligadas al Cromosoma X / Discapacidad Intelectual Tipo de estudio: Etiology_studies / Prognostic_studies Límite: Humans / Male / Newborn Idioma: En Revista: J Hum Genet Asunto de la revista: GENETICA MEDICA Año: 2022 Tipo del documento: Article País de afiliación: Alemania