Associated Papers
Novel Splice Variant in the HES7 Gene in Vietnamese Patient with Spondylocostal Dysostosis 4: A Case Report and Literature Review.
Nguyen HM et al.
Diagnostics (basel, Switzerland), 2025
A novel homozygous HES7 splicing variant causing spondylocostal dysostosis 4: a case report.
Lv S et al.
Frontiers in Pediatrics, 2023
Clinical genetics of spondylocostal dysostosis: A mini review.
Umair M et al.
Frontiers in Genetics, 2022
Whole Genome Sequencing Identifies a Missense Mutation in HES7 Associated with Short Tails in Asian Domestic Cats.
Xu X et al.
Scientific Reports, 2016
Whole genome sequencing in cats, identifies new models for blindness in AIPL1 and somite segmentation in HES7.
Lyons LA et al.
Bmc Genomics, 2016
Canine disorder mirrors human disease: exonic deletion in HES7 causes autosomal recessive spondylocostal dysostosis in miniature Schnauzer dogs.
Willet CE et al.
Plos One, 2015
Notch signaling in human development and disease.
Penton AL et al.
Seminars in Cell & Developmental Biology, 2012
Two novel missense mutations in HAIRY-AND-ENHANCER-OF-SPLIT-7 in a family with spondylocostal dysostosis.
Sparrow DB et al.
European Journal of Human Genetics : Ejhg, 2010
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