ArticleJournal of medical genetics2007
Osteopoikilosis, short stature and mental retardation as key features of a new microdeletion syndrome on 12q14.
Article in Journal of medical genetics, 2007. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
17 citing papers in PubMed, 61 citations in OpenAlex.
- Case Report: Two New Cases of Chromosome 12q14 Deletions and Review of the Literature.Frontiers in genetics · 2021Article
- 12q14.3 microdeletion involving HMGA2 gene cause a Silver-Russell syndrome-like phenotype: a case report and review of the literature.Italian journal of pediatrics · 2020Review
- 12q14 microduplication: a new clinical entity reciprocal to the microdeletion syndrome?BMC medical genomics · 2020Article
- Mutation in LEMD3 (Man1) Associated with Osteopoikilosis and Late-Onset Generalized Morphea: A New Buschke-Ollendorf Syndrome Variant.Case reports in dermatological medicine · 2016Article
- A splicing mutation of the HMGA2 gene is associated with Silver-Russell syndrome phenotype.Journal of human genetics · 2015Article
- 12q14 Microdeletions: Additional Case Series with Confirmation of a Macrocephaly Region.Case reports in genetics · 2015Article
- Insights into morphology and disease from the dog genome project.Annual review of cell and developmental biology · 2014Review
- Regulation of postnatal bone homeostasis by TGFβ.BoneKEy reports · 2013Review
- Nasal speech and hypothyroidism are common hallmarks of 12q15 microdeletions.European journal of human genetics : EJHG · 2011Article
- Genomic and clinical characteristics of six patients with partially overlapping interstitial deletions at 10p12p11.European journal of human genetics : EJHG · 2011Article
- The 12q14 microdeletion syndrome: six new cases confirming the role of HMGA2 in growth.European journal of human genetics : EJHG · 2011Article
- Genetic determinants of pubertal timing in the general population.Molecular and cellular endocrinology · 2010Review
- Clinical characterization of individuals with deletions of genes in holoprosencephaly pathways by aCGH refines the phenotypic spectrum of HPE.Human genetics · 2010Article
- Refinement of the 12q14 microdeletion syndrome: primordial dwarfism and developmental delay with or without osteopoikilosis.European journal of human genetics : EJHG · 2009Article
- Klippel-Feil syndrome with osteopoikilosis in a young lady and her four female relatives with osteopoikilosis.Clinical rheumatology · 2009Article
- Association studies of common variants in 10 hypogonadotropic hypogonadism genes with age at menarche.The Journal of clinical endocrinology and metabolism · 2008Article
- Molecular cytogenetics and cytogenomics of brain diseases.Current genomics · 2008Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
14 authors at 4 institutions in 3 countries.
Funding
Abstract
This report presents the detection of a heterozygous deletion at chromosome 12q14 in three unrelated patients with a similar phenotype consisting of mild mental retardation, failure to thrive in infancy, proportionate short stature and osteopoikilosis as the most characteristic features. In each case, this interstitial deletion was found using molecular karyotyping. The deletion occurred as a de novo event and varied between 3.44 and 6 megabases (Mb) in size with a 3.44 Mb common deleted region. The deleted interval was not flanked by low-copy repeats or segmental duplications. It contains 13 RefSeq genes, including LEMD3, which was previously shown to be the causal gene for osteopoikilosis. The observation of osteopoikilosis lesions should facilitate recognition of this new microdeletion syndrome among children with failure to thrive, short stature and learning disabilities.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
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.