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Accès ouvert déclaré 2025 erratum

Correction: Identification and functional characteristics of a novel splice site variant in L1CAM caused X-linked hydrocephalus

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1Pays d’affiliation déclarés

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Le résumé fourni par la source

• Please read through all the templates before choosing• Pick the most relevant text template(s) from the following page and delete all others.• Edit the text as necessary, ensuring that the original incorrect text is included for the record, please see the below.• Please do not use any extra formatting when editing the templates, and only modify the red text unless absolutely necessary• Submit to Frontiers following the instructions on this page.When the original text contained incorrect information, to preserve the scientific record, please include that text when editing the below templates. For example:There was a mistake in the Funding statement, an incorrect number was used. The correct number is "2015C03Bd051.". The publisher apologizes for this mistake.The original version of this article has been updated.In the published article, there was a mistake in the Funding statement. The funding statement for the Key Development Project of the Department of Science and Technology was displayed as "2015CBd051". The correct statement is "Key Development Project of Department of Science and Technology (2015C03Bd051).''Adding/removing text [According to the evidence usage guidelines of ACMG, we have found that there is a redundant effect in the use of PVS1 and PP3 evidence. The use of pp1 was inaccurate, and pp4 was omitted.]. A correction has been made to the section [Result Section, Bioinformatic analysis and pathogenicity classification, Paragraph 3]: "Based on the American College of Medical Genetics and Genomics (ACMG) and Association for Molecular Pathology (AMP) guidelines, the variant was classified as pathogenic (PVS1 + PM2 + PS3 + PP4). The PVS1 criterion was met due to the mutation affecting a canonical splice site, PM2 due to the absence of the variant in population databases, PS3 due to in vitro validation of Template continues on the next page minigene assay, and PP4 due to fetus's phenotype and family history is highly specific for X-linked hydrocephalus with L1CAM genetic etiology."The original version of this article has been updated.End of template. If you would like to request a correction for a reason not seen here, please contact the

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Le contrôle bibliographique ouvert

DOI retrouvé dans Crossref DOI retrouvé ; titre concordant.

Titre Crossref
Correction: Identification and functional characteristics of a novel splice site variant in L1CAM caused X-linked hydrocephalus
Date Crossref
10/09/2025
Éditeur
Frontiers Media SA
Type
journal-article

Ce recoupement confirme des métadonnées liées au DOI. Il ne confirme ni la méthode ni les conclusions de l’étude, et il ne compte pas comme une seconde source scientifique indépendante.

Où se fait cette recherche

  • Deyang Stomatological Hospital pays non établi dans la notice
    Établissement de santé
  • Deyang People's Hospital Department of Reproductive Medicine Center pays non établi dans la notice
    Établissement de santé
  • Deyang Key Laboratory of Birth Defects Prevention and Control pays non établi dans la notice
    Structure de recherche

Deyang Stomatological Hospital, Department of Reproductive Medicine Center — Deyang People's Hospital et Deyang Key Laboratory of Birth Defects Prevention and Control.

Une affiliation ne permet pas de déduire la nationalité d’un auteur.

Les sujets associés

Cerebrospinal fluid and hydrocephalusRetinal and Macular SurgeryFetal and Pediatric Neurological Disorders

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