Exome Sequencing Detects Uniparental Disomy of Chromosome 4 Revealing a LARP7 Pathogenic Variant Responsible for Alazami Syndrome: A Case Report.

Autor: Amélie BS; Genetic, Genomic and Procreation Department, Grenoble Alpes University Hospital, Grenoble, France., Julien T; Genetic, Genomic and Procreation Department, Grenoble Alpes University Hospital, Grenoble, France.; Institute for Advanced Biosciences, Inserm U 1209, CNRS UMR 5309, University Grenoble Alpes, Grenoble, France., Kevin Y; LIRMM, CNRS, Reference Center for Congenital Anomalies, Clinical Genetic Unit, Montpellier University Hospital Center, University Montpellier, Montpellier, France., Marie-Emmanuelle N; Genetic Department, Eurofins Biomnis, Lyon, France., Jean-Marc C; Cerba Laboratory, Saint-Ouen-l'Aumône, France., Fanny DT; Pediatric Neurology Unit, Grenoble Alpes University Hospital, Grenoble, France., Marjolaine W; LIRMM, CNRS, Reference Center for Congenital Anomalies, Clinical Genetic Unit, Montpellier University Hospital Center, University Montpellier, Montpellier, France., Klaus D; Genetic, Genomic and Procreation Department, Grenoble Alpes University Hospital, Grenoble, France.; Institute for Advanced Biosciences, Inserm U 1209, CNRS UMR 5309, University Grenoble Alpes, Grenoble, France., Véronique S; Genetic, Genomic and Procreation Department, Grenoble Alpes University Hospital, Grenoble, France.; Institute for Advanced Biosciences, Inserm U 1209, CNRS UMR 5309, University Grenoble Alpes, Grenoble, France., Charles C; Genetic, Genomic and Procreation Department, Grenoble Alpes University Hospital, Grenoble, France.; Institute for Advanced Biosciences, Inserm U 1209, CNRS UMR 5309, University Grenoble Alpes, Grenoble, France., Pauline LT; Genetic, Genomic and Procreation Department, Grenoble Alpes University Hospital, Grenoble, France.; Institute for Advanced Biosciences, Inserm U 1209, CNRS UMR 5309, University Grenoble Alpes, Grenoble, France.

Publikováno v: American journal of medical genetics. Part A [Am J Med Genet A] 2024 Oct 17, pp. e63891. Date of Electronic Publication: 2024 Oct 17.