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RNA Analysis and Clinical Characterization of a Novel Splice Variant in the NSD1 Gene Causing Familial Sotos Syndrome.

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Title: RNA Analysis and Clinical Characterization of a Novel Splice Variant in the NSD1 Gene Causing Familial Sotos Syndrome.
Authors: Villate O; Pediatric Oncology Group, Biocruces Bizkaia Health Research Institute, Barakaldo, Spain., Maortua H; Neurodegenerative Diseases Group, Biocruces Bizkaia Health Research Institute, Barakaldo, Spain.; Genetics Service, Hospital Universitario Cruces-Osakidetza, Barakaldo, Spain., Tejada MI; Genetics Service, Hospital Universitario Cruces-Osakidetza, Barakaldo, Spain.; Biocruces Bizkaia Health Research Institute, Barakaldo, Spain.; Spanish Consortium for Research on Rare Diseases (CIBERER), Madrid, Spain., Llano-Rivas I; Genetics Service, Hospital Universitario Cruces-Osakidetza, Barakaldo, Spain.
Source: Frontiers in pediatrics [Front Pediatr] 2022 Feb 02; Vol. 10, pp. 827802. Date of Electronic Publication: 2022 Feb 02 (Print Publication: 2022).
Publication Type: Journal Article
Journal Info: Publisher: Frontiers Media SA Country of Publication: Switzerland NLM ID: 101615492 Publication Model: eCollection Cited Medium: Print ISSN: 2296-2360 (Print) Linking ISSN: 22962360 NLM ISO Abbreviation: Front Pediatr Subsets: PubMed not MEDLINE
Database: MEDLINE Ultimate
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  Data: RNA Analysis and Clinical Characterization of a Novel Splice Variant in the NSD1 Gene Causing Familial Sotos Syndrome.
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  Data: <searchLink fieldCode="AU" term="%22Villate+O%22">Villate O</searchLink>; Pediatric Oncology Group, Biocruces Bizkaia Health Research Institute, Barakaldo, Spain.<br /><searchLink fieldCode="AU" term="%22Maortua+H%22">Maortua H</searchLink>; Neurodegenerative Diseases Group, Biocruces Bizkaia Health Research Institute, Barakaldo, Spain.; Genetics Service, Hospital Universitario Cruces-Osakidetza, Barakaldo, Spain.<br /><searchLink fieldCode="AU" term="%22Tejada+MI%22">Tejada MI</searchLink>; Genetics Service, Hospital Universitario Cruces-Osakidetza, Barakaldo, Spain.; Biocruces Bizkaia Health Research Institute, Barakaldo, Spain.; Spanish Consortium for Research on Rare Diseases (CIBERER), Madrid, Spain.<br /><searchLink fieldCode="AU" term="%22Llano-Rivas+I%22">Llano-Rivas I</searchLink>; Genetics Service, Hospital Universitario Cruces-Osakidetza, Barakaldo, Spain.
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  Data: <searchLink fieldCode="JN" term="%22101615492%22">Frontiers in pediatrics</searchLink> [Front Pediatr] 2022 Feb 02; Vol. 10, pp. 827802. <i>Date of Electronic Publication: </i>2022 Feb 02 (<i>Print Publication: </i>2022).
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Frontiers+Media+SA%22">Frontiers Media SA </searchLink><i>Country of Publication: </i>Switzerland <i>NLM ID: </i>101615492 <i>Publication Model: </i>eCollection <i>Cited Medium: </i>Print <i>ISSN: </i>2296-2360 (Print) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2222962360%22">22962360 </searchLink><i>NLM ISO Abbreviation: </i>Front Pediatr <i>Subsets: </i>PubMed not MEDLINE
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        Value: 10.3389/fped.2022.827802
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      – Code: eng
        Text: English
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      – TitleFull: RNA Analysis and Clinical Characterization of a Novel Splice Variant in the NSD1 Gene Causing Familial Sotos Syndrome.
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            NameFull: Villate O
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            NameFull: Maortua H
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            – D: 02
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              Text: 2022 Feb 02
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