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Case Report: First case of paternal mosaicism in Snijders Blok-Fisher syndrome.

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Title: Case Report: First case of paternal mosaicism in Snijders Blok-Fisher syndrome.
Authors: Barragán-Muñoz A; Department of Biochemistry and Molecular Genetics, Hospital Clinic of Barcelona, Barcelona, Spain., Trilla P; Department of Biochemistry and Molecular Genetics, Hospital Clinic of Barcelona, Barcelona, Spain.; Fundació de Recerca Clínic Barcelona-Institut d'Investigacions Biomèdiques August Pi i Sunyer (FCRB-IDIBAPS), Barcelona, Spain.; CIBER of Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain., Sanchez A; Department of Biochemistry and Molecular Genetics, Hospital Clinic of Barcelona, Barcelona, Spain.; Fundació de Recerca Clínic Barcelona-Institut d'Investigacions Biomèdiques August Pi i Sunyer (FCRB-IDIBAPS), Barcelona, Spain.; CIBER of Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain., Potrony M; Department of Biochemistry and Molecular Genetics, Hospital Clinic of Barcelona, Barcelona, Spain.; Fundació de Recerca Clínic Barcelona-Institut d'Investigacions Biomèdiques August Pi i Sunyer (FCRB-IDIBAPS), Barcelona, Spain.; CIBER of Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain., Madrigal I; Department of Biochemistry and Molecular Genetics, Hospital Clinic of Barcelona, Barcelona, Spain.; Fundació de Recerca Clínic Barcelona-Institut d'Investigacions Biomèdiques August Pi i Sunyer (FCRB-IDIBAPS), Barcelona, Spain.; CIBER of Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain., Rodriguez-Revenga L; Department of Biochemistry and Molecular Genetics, Hospital Clinic of Barcelona, Barcelona, Spain.; Fundació de Recerca Clínic Barcelona-Institut d'Investigacions Biomèdiques August Pi i Sunyer (FCRB-IDIBAPS), Barcelona, Spain.; CIBER of Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain., Alvarez-Mora MI; Department of Biochemistry and Molecular Genetics, Hospital Clinic of Barcelona, Barcelona, Spain.; Fundació de Recerca Clínic Barcelona-Institut d'Investigacions Biomèdiques August Pi i Sunyer (FCRB-IDIBAPS), Barcelona, Spain.; CIBER of Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain.
Source: Frontiers in genetics [Front Genet] 2026 Jul 28; Vol. 17, pp. 1892974. Date of Electronic Publication: 2026 Jul 28 (Print Publication: 2026).
Publication Type: Case Reports; Journal Article
Journal Info: Publisher: Frontiers Research Foundation Country of Publication: Switzerland NLM ID: 101560621 Publication Model: eCollection Cited Medium: Print ISSN: 1664-8021 (Print) Linking ISSN: 16648021 NLM ISO Abbreviation: Front Genet Subsets: PubMed not MEDLINE
Database: MEDLINE Ultimate
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  Data: Case Report: First case of paternal mosaicism in Snijders Blok-Fisher syndrome.
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  Data: <searchLink fieldCode="AU" term="%22Barragán-Muñoz+A%22">Barragán-Muñoz A</searchLink>; Department of Biochemistry and Molecular Genetics, Hospital Clinic of Barcelona, Barcelona, Spain.<br /><searchLink fieldCode="AU" term="%22Trilla+P%22">Trilla P</searchLink>; Department of Biochemistry and Molecular Genetics, Hospital Clinic of Barcelona, Barcelona, Spain.; Fundació de Recerca Clínic Barcelona-Institut d'Investigacions Biomèdiques August Pi i Sunyer (FCRB-IDIBAPS), Barcelona, Spain.; CIBER of Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain.<br /><searchLink fieldCode="AU" term="%22Sanchez+A%22">Sanchez A</searchLink>; Department of Biochemistry and Molecular Genetics, Hospital Clinic of Barcelona, Barcelona, Spain.; Fundació de Recerca Clínic Barcelona-Institut d'Investigacions Biomèdiques August Pi i Sunyer (FCRB-IDIBAPS), Barcelona, Spain.; CIBER of Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain.<br /><searchLink fieldCode="AU" term="%22Potrony+M%22">Potrony M</searchLink>; Department of Biochemistry and Molecular Genetics, Hospital Clinic of Barcelona, Barcelona, Spain.; Fundació de Recerca Clínic Barcelona-Institut d'Investigacions Biomèdiques August Pi i Sunyer (FCRB-IDIBAPS), Barcelona, Spain.; CIBER of Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain.<br /><searchLink fieldCode="AU" term="%22Madrigal+I%22">Madrigal I</searchLink>; Department of Biochemistry and Molecular Genetics, Hospital Clinic of Barcelona, Barcelona, Spain.; Fundació de Recerca Clínic Barcelona-Institut d'Investigacions Biomèdiques August Pi i Sunyer (FCRB-IDIBAPS), Barcelona, Spain.; CIBER of Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain.<br /><searchLink fieldCode="AU" term="%22Rodriguez-Revenga+L%22">Rodriguez-Revenga L</searchLink>; Department of Biochemistry and Molecular Genetics, Hospital Clinic of Barcelona, Barcelona, Spain.; Fundació de Recerca Clínic Barcelona-Institut d'Investigacions Biomèdiques August Pi i Sunyer (FCRB-IDIBAPS), Barcelona, Spain.; CIBER of Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain.<br /><searchLink fieldCode="AU" term="%22Alvarez-Mora+MI%22">Alvarez-Mora MI</searchLink>; Department of Biochemistry and Molecular Genetics, Hospital Clinic of Barcelona, Barcelona, Spain.; Fundació de Recerca Clínic Barcelona-Institut d'Investigacions Biomèdiques August Pi i Sunyer (FCRB-IDIBAPS), Barcelona, Spain.; CIBER of Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain.
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  Data: <searchLink fieldCode="JN" term="%22101560621%22">Frontiers in genetics</searchLink> [Front Genet] 2026 Jul 28; Vol. 17, pp. 1892974. <i>Date of Electronic Publication: </i>2026 Jul 28 (<i>Print Publication: </i>2026).
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Frontiers+Research+Foundation%22">Frontiers Research Foundation </searchLink><i>Country of Publication: </i>Switzerland <i>NLM ID: </i>101560621 <i>Publication Model: </i>eCollection <i>Cited Medium: </i>Print <i>ISSN: </i>1664-8021 (Print) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2216648021%22">16648021 </searchLink><i>NLM ISO Abbreviation: </i>Front Genet <i>Subsets: </i>PubMed not MEDLINE
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              Text: 2026 Jul 28
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