| scholarly article | Q13442814 |
| P356 | DOI | 10.1002/AJMG.A.36073 |
| P698 | PubMed publication ID | 23897666 |
| P50 | author | Duncan B. Sparrow | Q37382936 |
| Sally L. Dunwoodie | Q37382957 | ||
| Sian Ellard | Q58327173 | ||
| P2093 | author name string | Ryoichiro Kageyama | |
| Peter D Turnpenny | |||
| Eissa Ali Faqeih | |||
| Moeenaldeen Al-Sayed | |||
| Wafaa M Eyaid | |||
| Bahauddin Sallout | |||
| Abdulrahman Alswaid | |||
| Faroug Ababneh | |||
| Hadeel Rukban | |||
| P2860 | cites work | Mutations in the human delta homologue, DLL3, cause axial skeletal defects in spondylocostal dysostosis | Q22253406 |
| Spondylocostal dysplasia and neural tube defects | Q24514999 | ||
| Mutated MESP2 causes spondylocostal dysostosis in humans | Q24534025 | ||
| Mutation of the LUNATIC FRINGE gene in humans causes spondylocostal dysostosis with a severe vertebral phenotype | Q24540500 | ||
| Notch signaling regulates left-right asymmetry determination by inducing Nodal expression | Q28587727 | ||
| Dynamic expression and essential functions of Hes7 in somite segmentation | Q28593057 | ||
| Mutation of Hairy-and-Enhancer-of-Split-7 in humans causes spondylocostal dysostosis | Q28593626 | ||
| Anomalous development of brain structure and function in spina bifida myelomeningocele | Q33564674 | ||
| Mutations in the gene encoding the RER protein FKBP65 cause autosomal-recessive osteogenesis imperfecta | Q33772970 | ||
| Autosomal dominant spondylocostal dysostosis is caused by mutation in TBX6. | Q34323559 | ||
| Two novel missense mutations in HAIRY-AND-ENHANCER-OF-SPLIT-7 in a family with spondylocostal dysostosis | Q34329197 | ||
| Vertebrate segmentation: from cyclic gene networks to scoliosis | Q37881028 | ||
| The cardiac malpositions | Q37921397 | ||
| Orthopaedic management of spina bifida-part II: foot and ankle deformities | Q38064461 | ||
| Notch activity induces Nodal expression and mediates the establishment of left-right asymmetry in vertebrate embryos | Q39895384 | ||
| Loss of Cited2 causes congenital heart disease by perturbing left-right patterning of the body axis | Q43966599 | ||
| Another case of spondylocostal dysplasia and severe anomalies: a diagnostic and counseling dilemma. | Q51134472 | ||
| Node and midline defects are associated with left-right development in Delta1 mutant embryos. | Q52112250 | ||
| P433 | issue | 9 | |
| P407 | language of work or name | English | Q1860 |
| P921 | main subject | spondylocostal dysostosis | Q4821698 |
| dextrocardia | Q579665 | ||
| situs inversus | Q1456383 | ||
| P304 | page(s) | 2244-2249 | |
| P577 | publication date | 2013-07-29 | |
| P1433 | published in | American Journal of Medical Genetics | Q4744254 |
| P1476 | title | Mutation of HES7 in a large extended family with spondylocostal dysostosis and dextrocardia with situs inversus. | |
| P478 | volume | 161A |
| Q92957605 | An In Vitro Human Segmentation Clock Model Derived from Embryonic Stem Cells |
| Q35058303 | Canine disorder mirrors human disease: exonic deletion in HES7 causes autosomal recessive spondylocostal dysostosis in miniature Schnauzer dogs. |
| Q92932114 | Dstyk mutation leads to congenital scoliosis-like vertebral malformations in zebrafish via dysregulated mTORC1/TFEB pathway |
| Q38563680 | Genetic basis of human left-right asymmetry disorders |
| Q60046998 | Hybrids Provide Insight Into Cell and Organism Size Control |
| Q46795621 | Notch Signaling in Development, Tissue Homeostasis, and Disease |
| Q34538497 | Whole Genome Sequencing Identifies a Missense Mutation in HES7 Associated with Short Tails in Asian Domestic Cats |
| Q35576893 | Whole exome sequencing in an Indian family links Coats plus syndrome and dextrocardia with a homozygous novel CTC1 and a rare HES7 variation |
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