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Analysis of institutional authors

Gomis De Barbarà, RamonAuthorPotrony MAuthorBorrell AAuthorMasoller NAuthorNadal AAuthorSaez De Gordoa Elizalde KAuthorVillanueva?cañas JlAuthorPauta MAuthorJodar MAuthorMadrigal IAuthorBadenas CAuthorAlvarez?mora MiAuthorRodriguez?revenga LCorresponding Author

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October 5, 2022
Publications
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Review

Lethal Congenital Contracture Syndrome 11: A Case Report and Literature Review

Publicated to: Journal of Clinical Medicine. 11 (13): 3570- - 2022-07-01 11(13), DOI: 10.3390/jcm11133570

Authors:

Potrony, Miriam; Borrell, Antoni; Masoller, Narcis; Nadal, Alfons; Rodriguez-Carunchio, Leonardo; de Gordoa Elizalde, Karmele Saez; Francisco Quesada-Espinosa, Juan; Luis Villanueva-Canas, Jose; Pauta, Montse; Jodar, Meritxell; Madrigal, Irene; Badenas, Celia; Isabel Alvarez-Mora, Maria; Rodriguez-Revenga, Laia
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Affiliations

12 Octubre Univ Hosp, Genet Dept, Madrid 28041, Spain - Author
12 Octubre Univ Hosp, UDISGEN Unidad Dismorfol & Genet, Madrid 28041, Spain - Author
Biochemistry and Molecular Genetics Department, Hospital Clinic of Barcelona, Barcelona, 08036, Spain, CIBER of Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, 28029, Spain, Institut d’Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS - Author
Biochemistry and Molecular Genetics Department, Hospital Clinic of Barcelona, Barcelona, 08036, Spain, Institut d’Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Barcelona, 08036, Spain - Author
CIBER of Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, 28029, Spain, BCNatal, Barcelona Center for Maternal?Fetal and Neonatal Medicine (Hospital Clínic and Hospital Sant Joan de Deu), Institut Clínic de Ginecologia, Obstetricia i Neonat - Author
Genetics Department, 12 de Octubre University Hospital, Madrid, 28041, Spain, UDISGEN (Unidad de Dismorfología y Genética), 12 de Octubre University Hospital, Madrid, 28041, Spain - Author
Hosp Clin Barcelona, Biochem & Mol Genet Dept, Barcelona 08036, Spain - Author
Hosp Clin Barcelona, Mol Biol CORE CDB, Barcelona 08036, Spain - Author
Hosp Clin Barcelona, Pathol Dept, Biomed Diagnost Ctr, Barcelona 08036, Spain - Author
Inst Invest Biomed August Pi I Sunyer IDIBAPS, Barcelona 08036, Spain - Author
Inst Salud Carlos III, CIBER Rare Dis CIBERER, Madrid 28029, Spain - Author
Institut d’Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Barcelona, 08036, Spain, BCNatal, Barcelona Center for Maternal?Fetal and Neonatal Medicine (Hospital Clínic and Hospital Sant Joan de Deu), Institut Clínic de Ginecologia, Obstetricia i - Author
Institut d’Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Barcelona, 08036, Spain, Pathology Department, Biomedical Diagnostic Center Hospital Clínic de Barcelona, Barcelona, 08036, Spain, Department of Basic Clinical Practice, Medical School, U - Author
Molecular Biology CORE (CDB), Hospital Clínic de Barcelona, Barcelona, 08036, Spain - Author
Pathology Department, Biomedical Diagnostic Center Hospital Clínic de Barcelona, Barcelona, 08036, Spain - Author
Pathology Department, Biomedical Diagnostic Center Hospital Clínic de Barcelona, Barcelona, 08036, Spain, Medicine Department, University of Vic?Central University of Catalonia (UVic?UCC), Barcelona, 08500, Spain - Author
Univ Barcelona, BCNatal, Barcelona Ctr Maternal Fetal & Neonatal Med, Hosp Clin, Barcelona 08007, Spain - Author
Univ Barcelona, Hosp St Joan de Deu, Inst Clin Ginecol Obstet & Neonatol Fetal, I D Fetal Med Res Ctr, Barcelona 08007, Spain - Author
Univ Barcelona, Med Sch, Dept Basic Clin Practice, Barcelona 08007, Spain - Author
Univ Vic Cent Univ Catalonia UVic UCC, Med Dept, Barcelona 08500, Spain - Author
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Abstract

Lethal congenital contracture syndrome 11 (LCCS11) is caused by homozygous or compound heterozygous variants in the GLDN gene on chromosome 15q21. GLDN encodes gliomedin, a protein required for the formation of the nodes of Ranvier and development of the human peripheral nervous system. We report a fetus with ultrasound alterations detected at 28 weeks of gestation. The fetus exhibited hydrops, short long bones, fixed limb joints, absent fetal movements, and polyhydramnios. The pregnancy was terminated and postmortem studies confirmed the prenatal findings: distal arthrogryposis, fetal growth restriction, pulmonary hypoplasia, and retrognathia. The fetus had a normal chromosomal microarray analysis. Exome sequencing revealed two novel compound heterozygous variants in the GLDN associated with LCCS11. This manuscript reports this case and performs a literature review of all published LCCS11 cases. © 2022 by the authors. Licensee MDPI, Basel, Switzerland.
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Keywords

akinesiaarthrogryposis multiplex congenitacomponentfetal akinesia deformation sequencegldnguidelinesmutationsnodesranvierAnomalies cromosòmiquesArthrogryposis multiplex congenitaAtrofia muscularChromosome abnormalitiesExpressió gènicaFetal akinesia deformation sequenceFetusFoetus malformationsGene expressionGldnGliomedinMalformacions del fetusMuscular atrophy

Quality index

Bibliometric impact. Analysis of the contribution and dissemination channel

The work has been published in the journal Journal of Clinical Medicine due to its progression and the good impact it has achieved in recent years, according to the agency Scopus (SJR), it has become a reference in its field. In the year of publication of the work, 2022, it was in position , thus managing to position itself as a Q1 (Primer Cuartil), in the category Medicine (Miscellaneous).

Independientemente del impacto esperado determinado por el canal de difusión, es importante destacar el impacto real observado de la propia aportación.

Según las diferentes agencias de indexación, el número de citas acumuladas por esta publicación hasta la fecha 2026-04-04:

  • WoS: 4
  • Scopus: 3
  • Europe PMC: 3
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Impact and social visibility

From the perspective of influence or social adoption, and based on metrics associated with mentions and interactions provided by agencies specializing in calculating the so-called "Alternative or Social Metrics," we can highlight as of 2026-04-04:

  • The use, from an academic perspective evidenced by the Altmetric agency indicator referring to aggregations made by the personal bibliographic manager Mendeley, gives us a total of: 8.
  • The use of this contribution in bookmarks, code forks, additions to favorite lists for recurrent reading, as well as general views, indicates that someone is using the publication as a basis for their current work. This may be a notable indicator of future more formal and academic citations. This claim is supported by the result of the "Capture" indicator, which yields a total of: 8 (PlumX).

With a more dissemination-oriented intent and targeting more general audiences, we can observe other more global scores such as:

  • The Total Score from Altmetric: 4.
  • The number of mentions on the social network X (formerly Twitter): 1 (Altmetric).
  • The number of mentions on Wikipedia: 1 (Altmetric).

It is essential to present evidence supporting full alignment with institutional principles and guidelines on Open Science and the Conservation and Dissemination of Intellectual Heritage. A clear example of this is:

  • The work has been submitted to a journal whose editorial policy allows open Open Access publication.
  • Assignment of a Handle/URN as an identifier within the deposit in the Institutional Repository: http://hdl.handle.net/2445/191265
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Leadership analysis of institutional authors

There is a significant leadership presence as some of the institution’s authors appear as the first or last signer, detailed as follows: First Author (Potrony Mateu, Miriam) and Last Author (Rodríguez Revenga, Laia).

the author responsible for correspondence tasks has been Rodríguez Revenga, Laia.

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