Your browser doesn't support javascript.
loading
Novel noncanonical splice site variant causes mild CHD7-related disorder with variable intrafamilial expressivity.
Boschann, Felix; Kosmehl, Sabine; Bloching, Marc; Grünhagen, Johannes; Hildebrand, Gabriele; Horn, Denise; Lyutenski, Stefan.
  • Boschann F; Institute of Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Berlin, Germany.
  • Kosmehl S; Berlin Institute of Health at Charité - Universitätsmedizin Berlin, BIH Biomedical Innovation Academy, BIH Charité Clinician Scientist Program, Berlin, Germany.
  • Bloching M; Department of Otorhinolaryngology, Helios Hospital Berlin-Buch, Berlin, Germany.
  • Grünhagen J; Department of Otorhinolaryngology, Helios Hospital Berlin-Buch, Berlin, Germany.
  • Hildebrand G; Labor Berlin Charité Vivantes GmbH-Corporate Member of Institute for Medical Genetics and Human Genetics, Charité-Universitätsmedizin Berlin, Berlin, Germany.
  • Horn D; Institute of Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Berlin, Germany.
  • Lyutenski S; Institute of Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Berlin, Germany.
Am J Med Genet A ; 191(4): 1128-1132, 2023 04.
Article en En | MEDLINE | ID: mdl-36708132
Asunto(s)
Palabras clave
Texto completo
Imprimir
XML
PubMed Links
Search on Google

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Labio Leporino / Fisura del Paladar / Síndrome CHARGE Tipo de estudio: Etiology_studies Límite: Humans / Male Idioma: En Año: 2023 Tipo del documento: Article
Texto completo
Imprimir
XML
PubMed Links
Search on Google

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Labio Leporino / Fisura del Paladar / Síndrome CHARGE Tipo de estudio: Etiology_studies Límite: Humans / Male Idioma: En Año: 2023 Tipo del documento: Article