ArticleJournal of the Endocrine Society2018
Xq26.3 Duplication in a Boy With Motor Delay and Low Muscle Tone Refines the X-Linked Acrogigantism Genetic Locus.
Article in Journal of the Endocrine Society, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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.
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Who cites it
4 citing papers in PubMed.
- Upregulation of the Four and a Half LIM Domains 1 linked with familial venous dysplasia in a familial genetic examination.American journal of translational research · 2023Article
- Clinical Importance of aCGH in Genetic Counselling of Children with Psychomotor Retardation.The application of clinical genetics · 2022Article
- A synonymous UPF3B variant causing a speech disorder implicates NMD as a regulator of neurodevelopmental disorder gene networks.Human molecular genetics · 2020Article
- Genetics of Growth Disorders-Which Patients Require Genetic Testing?Frontiers in endocrinology · 2019Review
Corrections and comments
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Authors and funding
11 authors.
Funding
Abstract
We describe a 4-year-old boy with developmental delay who was found to carry by clinical grade (CG) molecular cytogenetics (MCs) a chromosome Xq26 microduplication. The report prompted a referral of the patient for possible X-linked acrogigantism (X-LAG), a well-defined condition (MIM300942) due to chromosomal microduplication of a nearby region. The patient was evaluated clinically and investigated for endocrine abnormalities related to X-LAG and not only did he not have acrogigantism, but his growth parameters and other hormones were all normal. We then performed high definition MCs and the duplication copy number variant (CNV) was confirmed to precisely map outside the X-LAG critical region and definitely did not harbor the X-LAG candidate gene,
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Registered trials
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