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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.
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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  Data: A Homozygous Missense COL1A1 Variant (p.Glu684Lys) Associated with an Arthrochalasia-like Ehlers-Danlos Syndrome Phenotype: A Case Report.
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  Data: <searchLink fieldCode="AU" term="%22Markova+T%22">Markova T</searchLink>; Research Centre for Medical Genetics, 115522 Moscow, Russia.<br /><searchLink fieldCode="AU" term="%22Melnik+E%22">Melnik E</searchLink>; Research Centre for Medical Genetics, 115522 Moscow, Russia.<br /><searchLink fieldCode="AU" term="%22Kurelev+M%22">Kurelev M</searchLink>; Research Centre for Medical Genetics, 115522 Moscow, Russia.<br /><searchLink fieldCode="AU" term="%22Cherevatova+T%22">Cherevatova T</searchLink>; Research Centre for Medical Genetics, 115522 Moscow, Russia.<br /><searchLink fieldCode="AU" term="%22Nikolaeva+A%22">Nikolaeva A</searchLink>; Research Centre for Medical Genetics, 115522 Moscow, Russia.<br /><searchLink fieldCode="AU" term="%22Gorodilova+D%22">Gorodilova D</searchLink>; Research Centre for Medical Genetics, 115522 Moscow, Russia.<br /><searchLink fieldCode="AU" term="%22Demina+N%22">Demina N</searchLink>; Research Centre for Medical Genetics, 115522 Moscow, Russia.<br /><searchLink fieldCode="AU" term="%22Dadali+E%22">Dadali E</searchLink>; Research Centre for Medical Genetics, 115522 Moscow, Russia.
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  Data: <searchLink fieldCode="JN" term="%22101551097%22">Genes</searchLink> [Genes (Basel)] 2026 Jun 10; Vol. 17 (6). <i>Date of Electronic Publication: </i>2026 Jun 10.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22MDPI%22">MDPI </searchLink><i>Country of Publication: </i>Switzerland <i>NLM ID: </i>101551097 <i>Publication Model: </i>Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>2073-4425 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2220734425%22">20734425 </searchLink><i>NLM ISO Abbreviation: </i>Genes (Basel) <i>Subsets: </i>MEDLINE
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              Text: 2026 Jun 10
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