Homozygous DMRT2 variant associates with severe rib malformations in a newborn

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

Compound heterozygous mutations in RIPPLY2 associated with vertebral segmentation defects

(2014) Aideen M. McInerney-Leo et al.   HUMAN MOLECULAR GENETICS

Mutation of HES7 in a large extended family with spondylocostal dysostosis and dextrocardia with situs inversus

(2013) Duncan B. Sparrow et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Regulation of mesenchymal-to-epithelial transition by PARAXIS during somitogenesis

(2013) Megan Rowton et al.   DEVELOPMENTAL DYNAMICS

Autosomal dominant spondylocostal dysostosis is caused by mutation in TBX6

(2013) Duncan B. Sparrow et al.   HUMAN MOLECULAR GENETICS

Autosomal dominant spondylocarpotarsal synostosis syndrome: Phenotypic homogeneity and genetic heterogeneity

(2008) B. Isidor et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Mutation of HAIRY-AND-ENHANCER-OF-SPLIT-7 in humans causes spondylocostal dysostosis

(2008) D. B. Sparrow et al.   HUMAN MOLECULAR GENETICS