ReviewJournal of inherited metabolic disease1994
Dysmorphic disorders--an overview.
Review in Journal of inherited metabolic disease, 1994. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
What it found
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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.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
0 citing papers in PubMed, 2 citations in OpenAlex.
No citing paper in PubMed yet.
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1 author at 1 institution in 1 country.
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Abstract
Clinical delineation of dysmorphic syndromes is important for patient management, family counselling and basic research. Productive areas of research in dysmorphology and developmental biology have included the study of the mouse homologies of human disease. Mutations have been identified in both species in highly conserved 'developmental' genes, and also because of phenotypic similarity of syndromes. Mosaicism--somatic, germline and placental--involving chromosomal aneuploidy, single gene mutations and functional differences between cell lines is an important cause of malformations and syndromes. Many recurrent pattern malformation syndromes of previously unknown cause have now been found to be due to chromosomal microdeletions. Diagnosis has been greatly aided by the molecular cytogenetic technique of fluorescent in situ hybridization.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.