Variant-specific effects define the phenotypic spectrum of HNRNPH2-associated neurodevelopmental disorders in males.
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| Title: | Variant-specific effects define the phenotypic spectrum of HNRNPH2-associated neurodevelopmental disorders in males. |
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| Authors: | Kreienkamp HJ; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Martinistrasse 52, 20246, Hamburg, Germany., Wagner M; Institute of Human Genetics, Technical University of Munich, Munich, Germany., Weigand H; Department of Pediatric Neurology, Developmental Medicine and Social Pediatrics, Dr. von Hauner's Children's Hospital, University of Munich, Munich, Germany., McConkie-Rossell A; Division of Medical Genetics, Department of Pediatrics, Duke University, Durham, USA., McDonald M; Division of Medical Genetics, Department of Pediatrics, Duke University, Durham, USA., Keren B; Département de Génétique, Hôpital La Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, Paris, France., Mignot C; Département de Génétique, Hôpital La Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, Paris, France., Gauthier J; Molecular Diagnostic Laboratory, CHU Sainte-Justine, Montreal, QC, Canada.; Division of Medical Genetics, Department of Pediatrics, CHU Sainte-Justine and Université de Montréal, Montreal, QC, Canada., Soucy JF; Molecular Diagnostic Laboratory, CHU Sainte-Justine, Montreal, QC, Canada.; Division of Medical Genetics, Department of Pediatrics, CHU Sainte-Justine and Université de Montréal, Montreal, QC, Canada., Michaud JL; Molecular Diagnostic Laboratory, CHU Sainte-Justine, Montreal, QC, Canada.; Division of Medical Genetics, Department of Pediatrics, CHU Sainte-Justine and Université de Montréal, Montreal, QC, Canada., Dumas M; Division of Genetic, Department of Pediatrics, The Barbara Bush Children's Hospital, Maine Medical Center, Portland, ME, USA., Smith R; Division of Genetic, Department of Pediatrics, The Barbara Bush Children's Hospital, Maine Medical Center, Portland, ME, USA., Löbel U; Department of Diagnostic and Interventional Neuroradiology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Hempel M; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Martinistrasse 52, 20246, Hamburg, Germany., Kubisch C; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Martinistrasse 52, 20246, Hamburg, Germany., Denecke J; Department of Pediatrics, University Medical Center Eppendorf, Hamburg, Germany., Campeau PM; Department of Pediatrics, CHU Sainte-Justine and University of Montreal, Montreal, Canada., Bain JM; Division of Child Neurology, Department of Neurology, Columbia University Irving Medical Center, New York, USA., Lessel D; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Martinistrasse 52, 20246, Hamburg, Germany. d.lessel@uke.de. |
| Source: | Human genetics [Hum Genet] 2022 Feb; Vol. 141 (2), pp. 257-272. Date of Electronic Publication: 2021 Dec 14. |
| Publication Type: | Case Reports; Journal Article; Twin Study |
| Journal Info: | Publisher: Springer Verlag Country of Publication: Germany NLM ID: 7613873 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-1203 (Electronic) Linking ISSN: 03406717 NLM ISO Abbreviation: Hum Genet Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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| ISSN: | 1432-1203 |
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| DOI: | 10.1007/s00439-021-02412-x |
