An overlapping phenotype of Osteogenesis imperfecta and Ehlers–Danlos syndrome due to a heterozygous mutation in COL1A1 and biallelic missense variants in TNXB identified by whole exome sequencing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

An overlapping phenotype of Osteogenesis imperfecta and Ehlers–Danlos syndrome due to a heterozygous mutation in COL1A1 and biallelic missense variants in TNXB identified by whole exome sequencing

Authors:	Luisa Mackenroth Björn Fischer‐Zirnsak Johannes Egerer Jochen Hecht Tilmann Kallinich Werner Stenzel Birgit Spors Arpad von Moers Stefan Mundlos Uwe Kornak Kerstin Gerhold Denise Horn

Affiliation:	1. Institute of Medical and Human Genetics, Charité‐Universitätsmedizin Berlin, Berlin, Germany;2. Faculty of Medicine Carl Gustav Carus, Institute for Clinical Genetics, Dresden, Germany;3. Max‐Planck‐Institut für Molekulare Genetik, Berlin, Germany;4. Department of Pediatric Pneumology and Immunology, Charité‐Universitätsmedizin Berlin, Berlin, Germany;5. Institute for Neuropathology, Charité, Universitätsmedizin Berlin, Berlin, Germany;6. Department of Radiology, Charité, Universitätsmedizin Berlin, Berlin, Germany;7. Children's Hospital, DRK‐Kliniken Westend, Berlin, Germany;8. Correspondence to:;9. Denise Horn, Institute of Medical and Human Genetics, Charité‐Universitätsmedizin Berlin, Augustenburger Platz 1, 13353 Berlin, Germany.;10. E‐mail:

Abstract:

Keywords:	osteogenesis imperfecta Ehlers– Danlos syndrome COL1A1 TNXB whole exome sequencing