A Homozygous Missense COL1A1 Variant (p.Glu684Lys) Associated with an Arthrochalasia-like Ehlers-Danlos Syndrome Phenotype: A Case Report.
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| Title: | A Homozygous Missense COL1A1 Variant (p.Glu684Lys) Associated with an Arthrochalasia-like Ehlers-Danlos Syndrome Phenotype: A Case Report. |
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| Authors: | Markova T; Research Centre for Medical Genetics, 115522 Moscow, Russia., Melnik E; Research Centre for Medical Genetics, 115522 Moscow, Russia., Kurelev M; Research Centre for Medical Genetics, 115522 Moscow, Russia., Cherevatova T; Research Centre for Medical Genetics, 115522 Moscow, Russia., Nikolaeva A; Research Centre for Medical Genetics, 115522 Moscow, Russia., Gorodilova D; Research Centre for Medical Genetics, 115522 Moscow, Russia., Demina N; Research Centre for Medical Genetics, 115522 Moscow, Russia., Dadali E; Research Centre for Medical Genetics, 115522 Moscow, Russia. |
| Source: | Genes [Genes (Basel)] 2026 Jun 10; Vol. 17 (6). Date of Electronic Publication: 2026 Jun 10. |
| Publication Type: | Case Reports; Journal Article |
| Journal Info: | Publisher: MDPI Country of Publication: Switzerland NLM ID: 101551097 Publication Model: Electronic Cited Medium: Internet ISSN: 2073-4425 (Electronic) Linking ISSN: 20734425 NLM ISO Abbreviation: Genes (Basel) Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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| ISSN: | 2073-4425 |
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| DOI: | 10.3390/genes17060679 |
