Clinical Variability of Classical Ehlers-Danlos Syndrome: A Family with Rare

Karina E Akhiiarova, Ekaterina N Loginova, Rita R Kildiyarova, Rita I Khusainova, Anton V Tyurin

Abstract readCase ReportsReview

In one paragraph

Review in International journal of molecular sciences, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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0citing papers in PubMed

–field-weighted citation impact

1 · What the graph read from it

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.

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2 · The registry

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3 · Its place in the literature

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0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

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PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

5 authors.

Karina E AkhiiarovaDepartment of Internal Diseases and Clinical Psychology, Bashkir State Medical University, Ufa 450008, Russia.ORCID 0000-0001-5965-2108

Ekaterina N LoginovaDepartment of Internal Diseases and Family Medicine, Additional Postgraduate Education, Omsk State Medical University, Omsk 644099, Russia.ORCID 0000-0002-0601-7044

Rita R KildiyarovaDepartment of Propaedeutics of Childhood Diseases, N.F. Filatov Clinical Institute of Child Health, I.M. Sechenov First Moscow State Medical University, Moscow 119146, Russia.ORCID 0000-0001-5601-0994

Rita I KhusainovaDepartment of Internal Diseases and Clinical Psychology, Bashkir State Medical University, Ufa 450008, Russia.ORCID 0000-0002-8643-850X

Anton V TyurinDepartment of Internal Diseases and Clinical Psychology, Bashkir State Medical University, Ufa 450008, Russia.ORCID 0000-0002-0841-3024

Funding

Russian Science Foundation 25-75-00057

6 · The paper itself

Abstract

Ehlers-Danlos syndrome (EDS) comprises a heterogeneous group of inherited connective tissue disorders. The 2017 International Classification of EDS delineates 13 subtypes, which are caused by pathogenic variants in 19 distinct genes encoding various collagen types or proteins involved in collagen metabolism. EDS is characterized by considerable clinical variability, both across EDS subtypes and in terms of phenotypic polymorphism and disease severity within individual subtypes. The present study describes a clinical case of classical-type Ehlers-Danlos syndrome segregating across three generations, illustrating the clinical variability observed within a single family carrying a single rare pathogenic variant, NM_000093.5(

Indexed as

Collagen Type VEhlers-Danlos SyndromeAdultFemaleHumansMaleMutationPedigreePhenotypeCOL5A1 protein, humanCollagen Type VCOL5A1connective tissue diseasesEhlers–Danlos syndromehereditary connective tissue diseasesjoint hypermobilityNGSskin hyperelasticityWES

Identifiers

PMID42737849

DOI10.3390/ijms27177952

PMCPMC13566190

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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.