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. |
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| 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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| ISSN: | 1664-8021 |
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| DOI: | 10.3389/fgene.2026.1892974 |
