Klippel–Feil syndrome associated with situs inversus: Description of a new case and exclusion of GDF1, GDF3 and GDF6 as causal genes
- 31 July 2012
- journal article
- case report
- Published by Elsevier BV in European Journal of Medical Genetics
- Vol. 55 (6-7), 414-417
- https://doi.org/10.1016/j.ejmg.2012.03.007
Abstract
No abstract availableKeywords
This publication has 27 references indexed in Scilit:
- Loss-of-Function Mutations in Growth Differentiation Factor-1 (GDF1) Are Associated with Congenital Heart Defects in HumansAmerican Journal of Human Genetics, 2007
- GDF6, a Novel Locus for a Spectrum of Ocular Developmental AnomaliesAmerican Journal of Human Genetics, 2007
- Chiari I malformation accompanied by assimilation of the atlas, Klippel-Feil syndrome, and syringomyelia: case reportSurgical Neurology, 2006
- Synergistic interaction between Gdf1 and Nodal during anterior axis developmentDevelopmental Biology, 2006
- Familial Klippel–Feil anomaly and t(5;8)(q35.1;p21.1) translocationAmerican Journal of Medical Genetics Part A, 2006
- Genetics of human heterotaxiasEuropean Journal of Human Genetics, 2005
- Klippel-Feil SyndromeClinical Orthopaedics and Related Research, 2004
- Scoliosis and Congenital Anomalies Associated With Klippel-Feil Syndrome Types I-IIISpine, 1997
- Thoracic Disc Protrusion and Situs Inversus in Klippel—Feil SyndromeSpine, 1990
- Autosomal recessive Klippel-Feil syndromeJournal of Medical Genetics, 1982