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2p25.3 microduplications involving MYT1L: further phenotypic characterization through an assessment of 16 new cases and a literature review.

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Title: 2p25.3 microduplications involving MYT1L: further phenotypic characterization through an assessment of 16 new cases and a literature review.
Authors: Bouassida M; Département de Génétique, Laboratoire de Biologie Médicale, CHI de Poissy-St Germain en Laye, F-78300, Poissy, France. malekbouassida94@hotmail.com., Egloff M; Service de Génétique, Centre Hospitalier Universitaire de Poitiers, F-86021, Poitiers, France., Levy J; Département de Génétique, Hôpital Robert Debré, APHP, F-75019, Paris, France., Chatron N; Service de cytogénétique, Groupement Hospitalier Est, Hospices Civils de Lyon, F-69500, Bron, France., Bernardini L; Istituto CSS-Mendel, It-00198, Roma, Italy., Le Guyader G; Service de Génétique, Centre Hospitalier Universitaire de Poitiers, F-86021, Poitiers, France., Tabet AC; Département de Génétique, Hôpital Robert Debré, APHP, F-75019, Paris, France., Schluth-Bolard C; Service de cytogénétique, Groupement Hospitalier Est, Hospices Civils de Lyon, F-69500, Bron, France., Brancati F; Department of Life, Health and Environmental Sciences, University of L'Aquila Piazzale Salvatore Tommasi, It-67100, Coppito - L'Aquila, Italy.; San Raffaele Roma, IRCCS, It-00163, Roma, Italy., Giuffrida MG; Istituto CSS-Mendel, It-00198, Roma, Italy., Dard R; Département de Génétique, Laboratoire de Biologie Médicale, CHI de Poissy-St Germain en Laye, F-78300, Poissy, France.; RHuMA Team, UMR-BREED, INRA-UVSQ-ENVA, UFR Simone Veil Santé, F-78380, Montigny-le-Bretonneux, France., Clorennec J; Département de Génétique, Laboratoire de Biologie Médicale, CHI de Poissy-St Germain en Laye, F-78300, Poissy, France.; RHuMA Team, UMR-BREED, INRA-UVSQ-ENVA, UFR Simone Veil Santé, F-78380, Montigny-le-Bretonneux, France., Coursimault J; Department of Genetics and Reference Center for Developmental Disorders, Normandie Univ, UNIROUEN, Inserm U1245 and CHU Rouen, F-76000, Rouen, France., Vialard F; Département de Génétique, Laboratoire de Biologie Médicale, CHI de Poissy-St Germain en Laye, F-78300, Poissy, France. francois.vialard@uvsq.fr.; RHuMA Team, UMR-BREED, INRA-UVSQ-ENVA, UFR Simone Veil Santé, F-78380, Montigny-le-Bretonneux, France. francois.vialard@uvsq.fr., Hervé B; Département de Génétique, Laboratoire de Biologie Médicale, CHI de Poissy-St Germain en Laye, F-78300, Poissy, France.
Source: European journal of human genetics : EJHG [Eur J Hum Genet] 2023 Aug; Vol. 31 (8), pp. 895-904. Date of Electronic Publication: 2023 May 15.
Publication Type: Review; Case Reports; Journal Article; Research Support, Non-U.S. Gov't
Journal Info: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5438 (Electronic) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: MEDLINE
Database: MEDLINE Ultimate
Description
ISSN:1476-5438
DOI:10.1038/s41431-023-01379-9