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Functionally impaired RPL8 variants associated with Diamond-Blackfan anemia and a Diamond-Blackfan anemia-like phenotype.

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Title: Functionally impaired RPL8 variants associated with Diamond-Blackfan anemia and a Diamond-Blackfan anemia-like phenotype.
Authors: Lebaron S; Molecular, Cellular and Developmental biology department (MCD), Centre de Biologie Intégrative (CBI), University of Toulouse, CNRS, UT3, Toulouse, France., O'Donohue MF; Molecular, Cellular and Developmental biology department (MCD), Centre de Biologie Intégrative (CBI), University of Toulouse, CNRS, UT3, Toulouse, France., Smith SC; Department of Pathology and Laboratory Medicine, Children's Mercy Hospital, Kansas City, Missouri, USA., Engleman KL; Division of Clinical Genetics, Children's Mercy Hospital, Kansas City, Missouri, USA.; Department of Pediatrics, Children's Mercy Hospital, Kansas City, Missouri, USA., Juusola J; GeneDx Inc., Gaithersburg, Maryland, USA., Safina NP; Division of Clinical Genetics, Children's Mercy Hospital, Kansas City, Missouri, USA.; Department of Pediatrics, Children's Mercy Hospital, Kansas City, Missouri, USA., Thiffault I; Department of Pathology and Laboratory Medicine, Children's Mercy Hospital, Kansas City, Missouri, USA.; University of Missouri-Kansas City School of Medicine, Kansas City, Missouri, USA.; Center for Pediatric Genomic Medicine, Children's Mercy Hospital, Kansas City, Missouri, USA., Saunders CJ; Department of Pathology and Laboratory Medicine, Children's Mercy Hospital, Kansas City, Missouri, USA.; University of Missouri-Kansas City School of Medicine, Kansas City, Missouri, USA.; Center for Pediatric Genomic Medicine, Children's Mercy Hospital, Kansas City, Missouri, USA., Gleizes PE; Molecular, Cellular and Developmental biology department (MCD), Centre de Biologie Intégrative (CBI), University of Toulouse, CNRS, UT3, Toulouse, France.
Source: Human mutation [Hum Mutat] 2022 Mar; Vol. 43 (3), pp. 389-402. Date of Electronic Publication: 2022 Jan 23.
Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
Journal Info: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1098-1004 (Electronic) Linking ISSN: 10597794 NLM ISO Abbreviation: Hum Mutat Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Functionally impaired RPL8 variants associated with Diamond-Blackfan anemia and a Diamond-Blackfan anemia-like phenotype.
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  Data: <searchLink fieldCode="AU" term="%22Lebaron+S%22">Lebaron S</searchLink>; Molecular, Cellular and Developmental biology department (MCD), Centre de Biologie Intégrative (CBI), University of Toulouse, CNRS, UT3, Toulouse, France.<br /><searchLink fieldCode="AU" term="%22O'Donohue+MF%22">O'Donohue MF</searchLink>; Molecular, Cellular and Developmental biology department (MCD), Centre de Biologie Intégrative (CBI), University of Toulouse, CNRS, UT3, Toulouse, France.<br /><searchLink fieldCode="AU" term="%22Smith+SC%22">Smith SC</searchLink>; Department of Pathology and Laboratory Medicine, Children's Mercy Hospital, Kansas City, Missouri, USA.<br /><searchLink fieldCode="AU" term="%22Engleman+KL%22">Engleman KL</searchLink>; Division of Clinical Genetics, Children's Mercy Hospital, Kansas City, Missouri, USA.; Department of Pediatrics, Children's Mercy Hospital, Kansas City, Missouri, USA.<br /><searchLink fieldCode="AU" term="%22Juusola+J%22">Juusola J</searchLink>; GeneDx Inc., Gaithersburg, Maryland, USA.<br /><searchLink fieldCode="AU" term="%22Safina+NP%22">Safina NP</searchLink>; Division of Clinical Genetics, Children's Mercy Hospital, Kansas City, Missouri, USA.; Department of Pediatrics, Children's Mercy Hospital, Kansas City, Missouri, USA.<br /><searchLink fieldCode="AU" term="%22Thiffault+I%22">Thiffault I</searchLink>; Department of Pathology and Laboratory Medicine, Children's Mercy Hospital, Kansas City, Missouri, USA.; University of Missouri-Kansas City School of Medicine, Kansas City, Missouri, USA.; Center for Pediatric Genomic Medicine, Children's Mercy Hospital, Kansas City, Missouri, USA.<br /><searchLink fieldCode="AU" term="%22Saunders+CJ%22">Saunders CJ</searchLink>; Department of Pathology and Laboratory Medicine, Children's Mercy Hospital, Kansas City, Missouri, USA.; University of Missouri-Kansas City School of Medicine, Kansas City, Missouri, USA.; Center for Pediatric Genomic Medicine, Children's Mercy Hospital, Kansas City, Missouri, USA.<br /><searchLink fieldCode="AU" term="%22Gleizes+PE%22">Gleizes PE</searchLink>; Molecular, Cellular and Developmental biology department (MCD), Centre de Biologie Intégrative (CBI), University of Toulouse, CNRS, UT3, Toulouse, France.
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  Data: <searchLink fieldCode="JN" term="%229215429%22">Human mutation</searchLink> [Hum Mutat] 2022 Mar; Vol. 43 (3), pp. 389-402. <i>Date of Electronic Publication: </i>2022 Jan 23.
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  Data: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Wiley-Liss%22">Wiley-Liss </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>9215429 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1098-1004 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2210597794%22">10597794 </searchLink><i>NLM ISO Abbreviation: </i>Hum Mutat <i>Subsets: </i>MEDLINE
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=34961992
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        Value: 10.1002/humu.24323
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        Text: English
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              Text: 2022 Mar
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