ArticleJournal of medical genetics1997
Chromosome 18q22.2-->qter deletion and a congenital anomaly syndrome with multiple vertebral segmentation defects.
Article in Journal of medical genetics, 1997. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers, 1 of them a synthesis that pooled it.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
8 citing papers in PubMed, 1 synthesis or guideline pooled it, 29 citations in OpenAlex.
- Genetics of non-isolated hemivertebra: A systematic review of fetal, neonatal, and infant cases.Clinical genetics · 2022Pooled it
- Fetal hemivertebra: a rare form of 18q deletion prenatal presentation.BMJ case reports · 2023Article
- Article
- SOCS6 is a selective suppressor of receptor tyrosine kinase signaling.Tumour biology : the journal of the International Society for Oncodevelopmental Biology and Medicine · 2014Review
- High-resolution genome screen for bone mineral density in heterogeneous stock rat.Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research · 2014Article
- VACTERL Association Etiology: The Impact of de novo and Rare Copy Number Variations.Molecular syndromology · 2013Article
- Novel mutations in DLL3, a somitogenesis gene encoding a ligand for the Notch signalling pathway, cause a consistent pattern of abnormal vertebral segmentation in spondylocostal dysostosis.Journal of medical genetics · 2003Article
- A gene for autosomal recessive spondylocostal dysostosis maps to 19q13.1-q13.3.American journal of human genetics · 1999Article
Corrections and comments
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Authors and funding
4 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Multiple vertebral segmentation defects occur in a group of conditions variably associated with anomalies of other organ systems. This report describes a female child in whom a deletion of chromosome 18 (18q22.2-->qter) is associated with congenital anomalies including multiple vertebral segmentation defects resembling sporadic spondylocostal dysplasia. The child also has unilateral renal agenesis and unilateral fibular aplasia. The association of severe multiple vertebral segmentation defects with 18q- in this patient suggests the possibility that a gene important for somite formation or vertebral differentiation maps to this segment of chromosome 18.
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Registered trials
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