ArticleHuman genome variation2016
A novel missense mutation of COL5A2 in a patient with Ehlers-Danlos syndrome.
Article in Human genome variation, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers, 1 of them a synthesis that pooled it.
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Who cites it
17 citing papers in PubMed, 1 synthesis or guideline pooled it, 24 citations in OpenAlex.
- Vascular phenotypes in nonvascular subtypes of the Ehlers-Danlos syndrome: a systematic review.Genetics in medicine : official journal of the American College of Medical Genetics · 2018Pooled it
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- Functionally confirmed compound heterozygous ADAM17 missense loss-of-function variants cause neonatal inflammatory skin and bowel disease 1.Scientific reports · 2021Article
- Investigating the effects of chronic perinatal alcohol and combined nicotine and alcohol exposure on dopaminergic and non-dopaminergic neurons in the VTA.Scientific reports · 2021Article
- Bioinformatics Analysis of a Prognostic miRNA Signature and Potential Key Genes in Pancreatic Cancer.Frontiers in oncology · 2021Article
- Classic Ehlers-Dalnos syndrome presenting as atypical chronic haematoma: a case report with novel frameshift mutation in COL5A1.BMC pediatrics · 2020Article
- Molecular diagnosis of an infant withHuman genome variation · 2020Article
- Novel compound heterozygousHuman genome variation · 2019Article
- The triple helix of collagens - an ancient protein structure that enabled animal multicellularity and tissue evolution.Journal of cell science · 2018Review
- Primary microcephaly caused by novel compound heterozygous mutations inHuman genome variation · 2018Article
- Prevalence of pathogenic germline variants detected by multigene sequencing in unselected Japanese patients with ovarian cancer.Oncotarget · 2017Article
- The first Japanese patient with mandibular hypoplasia, deafness, progeroid features and lipodystrophy diagnosed viaHuman genome variation · 2017Article
- NovelHuman genome variation · 2017Article
- Genome-first approach diagnosed Cabezas syndrome via novelHuman genome variation · 2017Article
Corrections and comments
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Authors and funding
9 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Ehlers-Danlos syndrome (EDS) is a group of inherited connective tissue disorders characterized by hyperextensible skin, joint hypermobility and soft tissue fragility. For molecular diagnosis, targeted exome sequencing was performed on a 9-year-old male patient who was clinically suspected to have EDS. The patient presented with progressive kyphoscoliosis, joint hypermobility and hyperextensible skin without scars. Ultimately, classical EDS was diagnosed by identifying a novel, mono-allelic mutation in COL5A2 [NM_000393.3(COL5A2_v001):c.682G>A, p.Gly228Arg].
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Registered trials
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