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Insight into Haploinsufficiency of the ERBB4 Gene: Expanding the Spectrum of Associated Phenotypes.

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Title: Insight into Haploinsufficiency of the ERBB4 Gene: Expanding the Spectrum of Associated Phenotypes.
Authors: Mademont-Soler I; Àrea de Genètica Clínica i Consell Genètic, Laboratori Clínic Territorial ICS Girona, Hospital Universitari de Girona Dr. Josep Trueta, Av.França S/N, 17007, Girona, Spain. imademont.girona.ics@gencat.cat.; Grup de Trastorns del Neurodesenvolupament, Institut d'Investigació Biomèdica de Girona Dr. Josep Trueta (IDIBGI), Girona, Spain. imademont.girona.ics@gencat.cat., Camós-Carreras M; Grup de Trastorns del Neurodesenvolupament, Institut d'Investigació Biomèdica de Girona Dr. Josep Trueta (IDIBGI), Girona, Spain.; Servei de Pediatria, Hospital Universitari de Girona Dr. Josep Trueta, Girona, Spain., Garde A; Centre de Référence Anomalies du Développement Et Syndromes Malformatifs, FHU TRANSLAD, Hôpital d'Enfants, CHU Dijon, Dijon, France.; Université Bourgogne-Franche Comté, Dijon, France., Innes AM; Departments of Pediatrics and Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, AB, Canada.; Alberta Children's Hospital Reserach Institute, University of Calgary, Calgary, AB, Canada., Perovic D; Faculty of Medicine, Institute of Human Genetics, University of Belgrade, Belgrade, Serbia., Golob B; Clinical Institute of Genomic Medicine, University Medical Centre Ljubljana, Ljubljana, Slovenia., Palacín A; Grup de Trastorns del Neurodesenvolupament, Institut d'Investigació Biomèdica de Girona Dr. Josep Trueta (IDIBGI), Girona, Spain.; Servei Especialitzat en Salut Mental i Discapacitat Intel·lectual, Institut d'Assistència Sanitària, Girona, Spain., Mroczkowski HJ; The University of Tennessee Health Science Center, Memphis, USA., Butler KM; Greenwood Genetic Center, Greenwood, SC, USA., Van Galen P; Departments of Pediatrics and Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, AB, Canada., Oprea G; Arcensus GmbH, Rostock, Germany., Güngör Ö; EGE University School of Medicine Medical Genetics, Izmir, Turkey., Casellas-Vidal D; Grup de Trastorns del Neurodesenvolupament, Institut d'Investigació Biomèdica de Girona Dr. Josep Trueta (IDIBGI), Girona, Spain.; Servei de Pediatria, Hospital Universitari de Girona Dr. Josep Trueta, Girona, Spain., Hernández G; Grup de Trastorns del Neurodesenvolupament, Institut d'Investigació Biomèdica de Girona Dr. Josep Trueta (IDIBGI), Girona, Spain.; Servei de Pediatria, Hospital Universitari de Girona Dr. Josep Trueta, Girona, Spain., Goel H; Hunter Genetics, Australia and the University of Newcastle, Callaghan, Australia., Appleby J; Lethbridge Outreach Genetic Services, Chinook Regional Hospital, Lethbridge, Alberta, Canada., Kravljanac R; Department of Neurology, Mother and Child Health Care Institute of Serbia 'Dr Vukan Cupic', Belgrade, Serbia.; Faculty of Medicine, University of Belgrade, Belgrade, Serbia., De Leon K; Greenwood Genetic Center, Columbia, SC, USA., Rad A; Arcensus GmbH, Rostock, Germany., Yavuz M; EGE University School of Medicine Neurology, Izmir, Turkey., Ameziane N; Arcensus GmbH, Rostock, Germany., Durmaz A; EGE University School of Medicine Medical Genetics, Izmir, Turkey., Popescu C; AMS Laborator Genetic, Bucharest, Romania.; Department of Genetics, Faculty of Medicine and Pharmacy, Vasile Goldis, Western University of Arad, Arad, Romania., Aykut A; EGE University School of Medicine Medical Genetics, Izmir, Turkey., Akın H; EGE University School of Medicine Medical Genetics, Izmir, Turkey., Gökçay F; EGE University School of Medicine Neurology, Izmir, Turkey., Mindruta I; Neurology Department, University Emergency Hospital, Bucharest, Romania., Bosankic B; University Children's Hospital, Belgrade, Serbia., Perrier R; Departments of Pediatrics and Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, AB, Canada., Burns W; Greenwood Genetic Center, Columbia, SC, USA.; Nationwide Children's Hospital, Columbus, OH, USA., Hanna DL; The University of Tennessee Health Science Center, Memphis, USA., Maksimovic N; Faculty of Medicine, Institute of Human Genetics, University of Belgrade, Belgrade, Serbia., Peterlin B; Clinical Institute of Genomic Medicine, University Medical Centre Ljubljana, Ljubljana, Slovenia., Prince B; Departments of Pediatrics and Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, AB, Canada.; Alberta Children's Hospital Reserach Institute, University of Calgary, Calgary, AB, Canada., Safraou H; Université Bourgogne-Franche Comté, Dijon, France.; Service de Génomique Médicale, Laboratoire de Biologie Médicale, CHU Dijon Bourgogne, Dijon, France., Obón M; Àrea de Genètica Clínica i Consell Genètic, Laboratori Clínic Territorial ICS Girona, Hospital Universitari de Girona Dr. Josep Trueta, Av.França S/N, 17007, Girona, Spain.; Grup de Trastorns del Neurodesenvolupament, Institut d'Investigació Biomèdica de Girona Dr. Josep Trueta (IDIBGI), Girona, Spain., Esteba-Castillo S; Grup de Trastorns del Neurodesenvolupament, Institut d'Investigació Biomèdica de Girona Dr. Josep Trueta (IDIBGI), Girona, Spain.; Servei Especialitzat en Salut Mental i Discapacitat Intel·lectual, Institut d'Assistència Sanitària, Girona, Spain.
Source: Journal of autism and developmental disorders [J Autism Dev Disord] 2026 May 25. Date of Electronic Publication: 2026 May 25.
Publication Type: Journal Article
Journal Info: Publisher: Springer Country of Publication: United States NLM ID: 7904301 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-3432 (Electronic) Linking ISSN: 01623257 NLM ISO Abbreviation: J Autism Dev Disord Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Insight into Haploinsufficiency of the ERBB4 Gene: Expanding the Spectrum of Associated Phenotypes.
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  Data: <searchLink fieldCode="AU" term="%22Mademont-Soler+I%22">Mademont-Soler I</searchLink>; Àrea de Genètica Clínica i Consell Genètic, Laboratori Clínic Territorial ICS Girona, Hospital Universitari de Girona Dr. Josep Trueta, Av.França S/N, 17007, Girona, Spain. imademont.girona.ics@gencat.cat.; Grup de Trastorns del Neurodesenvolupament, Institut d'Investigació Biomèdica de Girona Dr. Josep Trueta (IDIBGI), Girona, Spain. imademont.girona.ics@gencat.cat.<br /><searchLink fieldCode="AU" term="%22Camós-Carreras+M%22">Camós-Carreras M</searchLink>; Grup de Trastorns del Neurodesenvolupament, Institut d'Investigació Biomèdica de Girona Dr. Josep Trueta (IDIBGI), Girona, Spain.; Servei de Pediatria, Hospital Universitari de Girona Dr. Josep Trueta, Girona, Spain.<br /><searchLink fieldCode="AU" term="%22Garde+A%22">Garde A</searchLink>; Centre de Référence Anomalies du Développement Et Syndromes Malformatifs, FHU TRANSLAD, Hôpital d'Enfants, CHU Dijon, Dijon, France.; Université Bourgogne-Franche Comté, Dijon, France.<br /><searchLink fieldCode="AU" term="%22Innes+AM%22">Innes AM</searchLink>; Departments of Pediatrics and Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, AB, Canada.; Alberta Children's Hospital Reserach Institute, University of Calgary, Calgary, AB, Canada.<br /><searchLink fieldCode="AU" term="%22Perovic+D%22">Perovic D</searchLink>; Faculty of Medicine, Institute of Human Genetics, University of Belgrade, Belgrade, Serbia.<br /><searchLink fieldCode="AU" term="%22Golob+B%22">Golob B</searchLink>; Clinical Institute of Genomic Medicine, University Medical Centre Ljubljana, Ljubljana, Slovenia.<br /><searchLink fieldCode="AU" term="%22Palacín+A%22">Palacín A</searchLink>; Grup de Trastorns del Neurodesenvolupament, Institut d'Investigació Biomèdica de Girona Dr. Josep Trueta (IDIBGI), Girona, Spain.; Servei Especialitzat en Salut Mental i Discapacitat Intel·lectual, Institut d'Assistència Sanitària, Girona, Spain.<br /><searchLink fieldCode="AU" term="%22Mroczkowski+HJ%22">Mroczkowski HJ</searchLink>; The University of Tennessee Health Science Center, Memphis, USA.<br /><searchLink fieldCode="AU" term="%22Butler+KM%22">Butler KM</searchLink>; Greenwood Genetic Center, Greenwood, SC, USA.<br /><searchLink fieldCode="AU" term="%22Van+Galen+P%22">Van Galen P</searchLink>; Departments of Pediatrics and Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, AB, Canada.<br /><searchLink fieldCode="AU" term="%22Oprea+G%22">Oprea G</searchLink>; Arcensus GmbH, Rostock, Germany.<br /><searchLink fieldCode="AU" term="%22Güngör+Ö%22">Güngör Ö</searchLink>; EGE University School of Medicine Medical Genetics, Izmir, Turkey.<br /><searchLink fieldCode="AU" term="%22Casellas-Vidal+D%22">Casellas-Vidal D</searchLink>; Grup de Trastorns del Neurodesenvolupament, Institut d'Investigació Biomèdica de Girona Dr. Josep Trueta (IDIBGI), Girona, Spain.; Servei de Pediatria, Hospital Universitari de Girona Dr. Josep Trueta, Girona, Spain.<br /><searchLink fieldCode="AU" term="%22Hernández+G%22">Hernández G</searchLink>; Grup de Trastorns del Neurodesenvolupament, Institut d'Investigació Biomèdica de Girona Dr. Josep Trueta (IDIBGI), Girona, Spain.; Servei de Pediatria, Hospital Universitari de Girona Dr. Josep Trueta, Girona, Spain.<br /><searchLink fieldCode="AU" term="%22Goel+H%22">Goel H</searchLink>; Hunter Genetics, Australia and the University of Newcastle, Callaghan, Australia.<br /><searchLink fieldCode="AU" term="%22Appleby+J%22">Appleby J</searchLink>; Lethbridge Outreach Genetic Services, Chinook Regional Hospital, Lethbridge, Alberta, Canada.<br /><searchLink fieldCode="AU" term="%22Kravljanac+R%22">Kravljanac R</searchLink>; Department of Neurology, Mother and Child Health Care Institute of Serbia 'Dr Vukan Cupic', Belgrade, Serbia.; Faculty of Medicine, University of Belgrade, Belgrade, Serbia.<br /><searchLink fieldCode="AU" term="%22De+Leon+K%22">De Leon K</searchLink>; Greenwood Genetic Center, Columbia, SC, USA.<br /><searchLink fieldCode="AU" term="%22Rad+A%22">Rad A</searchLink>; Arcensus GmbH, Rostock, Germany.<br /><searchLink fieldCode="AU" term="%22Yavuz+M%22">Yavuz M</searchLink>; EGE University School of Medicine Neurology, Izmir, Turkey.<br /><searchLink fieldCode="AU" term="%22Ameziane+N%22">Ameziane N</searchLink>; Arcensus GmbH, Rostock, Germany.<br /><searchLink fieldCode="AU" term="%22Durmaz+A%22">Durmaz A</searchLink>; EGE University School of Medicine Medical Genetics, Izmir, Turkey.<br /><searchLink fieldCode="AU" term="%22Popescu+C%22">Popescu C</searchLink>; AMS Laborator Genetic, Bucharest, Romania.; Department of Genetics, Faculty of Medicine and Pharmacy, Vasile Goldis, Western University of Arad, Arad, Romania.<br /><searchLink fieldCode="AU" term="%22Aykut+A%22">Aykut A</searchLink>; EGE University School of Medicine Medical Genetics, Izmir, Turkey.<br /><searchLink fieldCode="AU" term="%22Akın+H%22">Akın H</searchLink>; EGE University School of Medicine Medical Genetics, Izmir, Turkey.<br /><searchLink fieldCode="AU" term="%22Gökçay+F%22">Gökçay F</searchLink>; EGE University School of Medicine Neurology, Izmir, Turkey.<br /><searchLink fieldCode="AU" term="%22Mindruta+I%22">Mindruta I</searchLink>; Neurology Department, University Emergency Hospital, Bucharest, Romania.<br /><searchLink fieldCode="AU" term="%22Bosankic+B%22">Bosankic B</searchLink>; University Children's Hospital, Belgrade, Serbia.<br /><searchLink fieldCode="AU" term="%22Perrier+R%22">Perrier R</searchLink>; Departments of Pediatrics and Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, AB, Canada.<br /><searchLink fieldCode="AU" term="%22Burns+W%22">Burns W</searchLink>; Greenwood Genetic Center, Columbia, SC, USA.; Nationwide Children's Hospital, Columbus, OH, USA.<br /><searchLink fieldCode="AU" term="%22Hanna+DL%22">Hanna DL</searchLink>; The University of Tennessee Health Science Center, Memphis, USA.<br /><searchLink fieldCode="AU" term="%22Maksimovic+N%22">Maksimovic N</searchLink>; Faculty of Medicine, Institute of Human Genetics, University of Belgrade, Belgrade, Serbia.<br /><searchLink fieldCode="AU" term="%22Peterlin+B%22">Peterlin B</searchLink>; Clinical Institute of Genomic Medicine, University Medical Centre Ljubljana, Ljubljana, Slovenia.<br /><searchLink fieldCode="AU" term="%22Prince+B%22">Prince B</searchLink>; Departments of Pediatrics and Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, AB, Canada.; 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