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GRM7-related disorder: five additional patients from three independent families and review of the literature.

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Bibliographic Details
Title: GRM7-related disorder: five additional patients from three independent families and review of the literature.
Authors: Januel L; Hospices Civils de Lyon, Groupe Hospitalier Est, Service de Génétique, Bron, France. Electronic address: louis.januel@chu-lyon.fr., Chatron N; Hospices Civils de Lyon, Groupe Hospitalier Est, Service de Génétique, Bron, France; Institut NeuroMyoGene PNMG, CNRS UMR5310, INSERM U1217, Université Claude Bernard Lyon 1, Lyon, France., Rivier-Ringenbach C; Hôpital Nord-Ouest, Service de Neuropédiatre, Villefranche sur Saône, France., Cabet S; Hospices Civils de Lyon, Groupe Hospitalier Est, Service de Radiologie, Bron, France., Labalme A; Hospices Civils de Lyon, Groupe Hospitalier Est, Service de Génétique, Bron, France., Sahin Y; Genoks Genetic Laboratory, Ankara, Turkey., Darvish H; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ, USA., Kruer M; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ, USA., Bakhtiari S; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ, USA., Sanlaville D; Hospices Civils de Lyon, Groupe Hospitalier Est, Service de Génétique, Bron, France; Institut NeuroMyoGene PNMG, CNRS UMR5310, INSERM U1217, Université Claude Bernard Lyon 1, Lyon, France., de Sainte Agathe JM; Département de Génétique Médicale, GHU Pitié-Salpêtrière, AP-HP.Sorbonne Université, Paris, France., Lesca G; Hospices Civils de Lyon, Groupe Hospitalier Est, Service de Génétique, Bron, France; Institut NeuroMyoGene PNMG, CNRS UMR5310, INSERM U1217, Université Claude Bernard Lyon 1, Lyon, France.
Source: European journal of medical genetics [Eur J Med Genet] 2024 Feb; Vol. 67, pp. 104893. Date of Electronic Publication: 2023 Dec 08.
Publication Type: Review; Case Reports; Journal Article
Journal Info: Publisher: Elsevier Country of Publication: Netherlands NLM ID: 101247089 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1878-0849 (Electronic) Linking ISSN: 17697212 NLM ISO Abbreviation: Eur J Med Genet Subsets: MEDLINE
Database: MEDLINE Ultimate
Description
ISSN:1878-0849
DOI:10.1016/j.ejmg.2023.104893