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Mild MDPL in a patient with a novel de novo missense variant in the Cys-B region of POLD1.
Chopra, Maya; Caswell, Richard; Barcia, Giulia; Rondeau, Sophie; Jonard, Laurence; Nitchké, Patrick; Amram, Daniel; Bellaiche, Marc-Lionel; Abadie, Veronique; Parodi, Marine; Denoyelle, Francoise; Hattersley, Andrew; Bole, Christine; Lyonnet, Stanislas; Marlin, Sandrine.
Affiliation
  • Chopra M; Service de Génétique Clinique, Hôpital Necker, Assistance Publique Hôpitaux de Paris (AP-HP), and Imagine Institute, 75015, Paris, France.
  • Caswell R; Rosamund Stone Zander Translational Neuroscience Center, Boston Children's Hospital, Boston, USA.
  • Barcia G; Institute of Biomedical and Clinical Science, University of Exeter School of Medicine, Exeter, UK.
  • Rondeau S; Service de Génétique Moléculaire, Hôpital Necker, AP-HP, Paris, France.
  • Jonard L; Service de Génétique Moléculaire, Hôpital Necker, AP-HP, Paris, France.
  • Nitchké P; Service de Génétique Moléculaire, Hôpital Necker, AP-HP, Paris, France.
  • Amram D; Centre de Référence des Surdités Génétiques, Institut Imagine, Hôpital Necker, AP-HP, Paris, France.
  • Bellaiche ML; Bioinformatics Platform, Institut Imagine, Université Paris Descartes, Paris, France.
  • Abadie V; Service de Génétique Clinique, Centre Hopsitalier Intercommunal de Créteil, Créteil, France.
  • Parodi M; Service de Gastroentérologie pédiatrique, Hôpital Robert Debré, AP-HP, Paris, France.
  • Denoyelle F; Service de Pédiatrie, Hôpital Necker, AP-HP, Paris, France.
  • Hattersley A; Service d'ORL pédiatrique, Hôpital Necker, AP-HP, Paris, France.
  • Bole C; Service d'ORL pédiatrique, Hôpital Necker, AP-HP, Paris, France.
  • Lyonnet S; Institute of Biomedical and Clinical Science, University of Exeter School of Medicine, Exeter, UK.
  • Marlin S; Paris Descartes-Sorbonne Paris Cité Université, Institut Imagine, Paris, France.
Eur J Hum Genet ; 30(8): 960-966, 2022 08.
Article in En | MEDLINE | ID: mdl-35590056
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: DNA Polymerase III / Iron-Sulfur Proteins / Lipodystrophy Limits: Child / Humans / Male Language: En Journal: Eur J Hum Genet Year: 2022 Document type: Article
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: DNA Polymerase III / Iron-Sulfur Proteins / Lipodystrophy Limits: Child / Humans / Male Language: En Journal: Eur J Hum Genet Year: 2022 Document type: Article