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Expanding the HPSE2 Genotypic Spectrum in Urofacial Syndrome, A Disease Featuring a Peripheral Neuropathy of the Urinary Bladder.

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Title: Expanding the HPSE2 Genotypic Spectrum in Urofacial Syndrome, A Disease Featuring a Peripheral Neuropathy of the Urinary Bladder.
Authors: Beaman GM; Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Manchester, United Kingdom.; Division of Evolution, Infection, and Genomics, Faculty of Biology, Medicine, and Human Sciences, University of Manchester, Manchester, United Kingdom., Lopes FM; Division of Cell Matrix Biology and Regenerative Medicine, School of Biological Sciences, Faculty of Biology Medicine and Health, University of Manchester, Manchester, United Kingdom., Hofmann A; Department of Pediatric Urology, KUNO Clinic St. Hedwig Clinic, University Medical Center Regensburg, Regensburg, Germany., Roesch W; Department of Pediatric Urology, KUNO Clinic St. Hedwig Clinic, University Medical Center Regensburg, Regensburg, Germany., Promm M; Department of Pediatric Urology, KUNO Clinic St. Hedwig Clinic, University Medical Center Regensburg, Regensburg, Germany., Bijlsma EK; Department of Clinical Genetics, Leiden University Medical Centre, Leiden, Netherlands., Patel C; Genetic Health Queensland, Royal Brisbane and Women's Hospital, Herston, QLD, Australia., Akinci A; Department of Pediatric Urology, Ankara University School of Medicine, Cebeci Children's Hospital, Ankara, Turkey., Burgu B; Department of Pediatric Urology, Ankara University School of Medicine, Cebeci Children's Hospital, Ankara, Turkey., Knijnenburg J; Department of Clinical Genetics, Leiden University Medical Centre, Leiden, Netherlands., Ho G; Sydney Genome Diagnostics, Children's Hospital at Westmead, Westmead, NSW, Australia.; Disciplines of Child and Adolescent Health and Genomic Medicine, University of Sydney, Sydney, NSW, Australia., Aufschlaeger C; Department of Pediatric Urology, KUNO Clinic St. Hedwig Clinic, University Medical Center Regensburg, Regensburg, Germany., Dathe S; Department of Pediatric Urology, KUNO Clinic St. Hedwig Clinic, University Medical Center Regensburg, Regensburg, Germany.; Städtisches Klinikum Dessau, Dessau-Roslau, Germany., Voelckel MA; Department of Medical Genetics, Hospital La Timone, Marseille, France., Cohen M; Center for Human Genetics and Laboratory Diagnostics (AHC) Medical Labs Martinsried, Martinsried, Germany., Yue WW; Biosciences Institute, Medical School, Newcastle University, Newcastle, United Kingdom., Stuart HM; Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Manchester, United Kingdom.; Division of Evolution, Infection, and Genomics, Faculty of Biology, Medicine, and Human Sciences, University of Manchester, Manchester, United Kingdom., Mckenzie EA; Protein Expression Facility, Manchester Institute of Biotechnology, University of Manchester, Manchester, United Kingdom., Elvin M; Peak Proteins Ltd., Macclesfield, United Kingdom., Roberts NA; Division of Cell Matrix Biology and Regenerative Medicine, School of Biological Sciences, Faculty of Biology Medicine and Health, University of Manchester, Manchester, United Kingdom., Woolf AS; Division of Cell Matrix Biology and Regenerative Medicine, School of Biological Sciences, Faculty of Biology Medicine and Health, University of Manchester, Manchester, United Kingdom.; Royal Manchester Children's Hospital, Manchester University NHS Foundation Trust, Manchester Academic Health Science Centre, Manchester, United Kingdom., Newman WG; Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Manchester, United Kingdom.; Division of Evolution, Infection, and Genomics, Faculty of Biology, Medicine, and Human Sciences, University of Manchester, Manchester, United Kingdom.
Source: Frontiers in genetics [Front Genet] 2022 Jun 23; Vol. 13, pp. 896125. Date of Electronic Publication: 2022 Jun 23 (Print Publication: 2022).
Publication Type: Journal Article
Journal Info: Publisher: Frontiers Research Foundation Country of Publication: Switzerland NLM ID: 101560621 Publication Model: eCollection Cited Medium: Print ISSN: 1664-8021 (Print) Linking ISSN: 16648021 NLM ISO Abbreviation: Front Genet Subsets: PubMed not MEDLINE
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  Data: Expanding the HPSE2 Genotypic Spectrum in Urofacial Syndrome, A Disease Featuring a Peripheral Neuropathy of the Urinary Bladder.
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  Data: <searchLink fieldCode="AU" term="%22Beaman+GM%22">Beaman GM</searchLink>; Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Manchester, United Kingdom.; Division of Evolution, Infection, and Genomics, Faculty of Biology, Medicine, and Human Sciences, University of Manchester, Manchester, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Lopes+FM%22">Lopes FM</searchLink>; Division of Cell Matrix Biology and Regenerative Medicine, School of Biological Sciences, Faculty of Biology Medicine and Health, University of Manchester, Manchester, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Hofmann+A%22">Hofmann A</searchLink>; Department of Pediatric Urology, KUNO Clinic St. Hedwig Clinic, University Medical Center Regensburg, Regensburg, Germany.<br /><searchLink fieldCode="AU" term="%22Roesch+W%22">Roesch W</searchLink>; Department of Pediatric Urology, KUNO Clinic St. Hedwig Clinic, University Medical Center Regensburg, Regensburg, Germany.<br /><searchLink fieldCode="AU" term="%22Promm+M%22">Promm M</searchLink>; Department of Pediatric Urology, KUNO Clinic St. Hedwig Clinic, University Medical Center Regensburg, Regensburg, Germany.<br /><searchLink fieldCode="AU" term="%22Bijlsma+EK%22">Bijlsma EK</searchLink>; Department of Clinical Genetics, Leiden University Medical Centre, Leiden, Netherlands.<br /><searchLink fieldCode="AU" term="%22Patel+C%22">Patel C</searchLink>; Genetic Health Queensland, Royal Brisbane and Women's Hospital, Herston, QLD, Australia.<br /><searchLink fieldCode="AU" term="%22Akinci+A%22">Akinci A</searchLink>; Department of Pediatric Urology, Ankara University School of Medicine, Cebeci Children's Hospital, Ankara, Turkey.<br /><searchLink fieldCode="AU" term="%22Burgu+B%22">Burgu B</searchLink>; Department of Pediatric Urology, Ankara University School of Medicine, Cebeci Children's Hospital, Ankara, Turkey.<br /><searchLink fieldCode="AU" term="%22Knijnenburg+J%22">Knijnenburg J</searchLink>; Department of Clinical Genetics, Leiden University Medical Centre, Leiden, Netherlands.<br /><searchLink fieldCode="AU" term="%22Ho+G%22">Ho G</searchLink>; Sydney Genome Diagnostics, Children's Hospital at Westmead, Westmead, NSW, Australia.; Disciplines of Child and Adolescent Health and Genomic Medicine, University of Sydney, Sydney, NSW, Australia.<br /><searchLink fieldCode="AU" term="%22Aufschlaeger+C%22">Aufschlaeger C</searchLink>; Department of Pediatric Urology, KUNO Clinic St. Hedwig Clinic, University Medical Center Regensburg, Regensburg, Germany.<br /><searchLink fieldCode="AU" term="%22Dathe+S%22">Dathe S</searchLink>; Department of Pediatric Urology, KUNO Clinic St. Hedwig Clinic, University Medical Center Regensburg, Regensburg, Germany.; Städtisches Klinikum Dessau, Dessau-Roslau, Germany.<br /><searchLink fieldCode="AU" term="%22Voelckel+MA%22">Voelckel MA</searchLink>; Department of Medical Genetics, Hospital La Timone, Marseille, France.<br /><searchLink fieldCode="AU" term="%22Cohen+M%22">Cohen M</searchLink>; Center for Human Genetics and Laboratory Diagnostics (AHC) Medical Labs Martinsried, Martinsried, Germany.<br /><searchLink fieldCode="AU" term="%22Yue+WW%22">Yue WW</searchLink>; Biosciences Institute, Medical School, Newcastle University, Newcastle, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Stuart+HM%22">Stuart HM</searchLink>; Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Manchester, United Kingdom.; Division of Evolution, Infection, and Genomics, Faculty of Biology, Medicine, and Human Sciences, University of Manchester, Manchester, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Mckenzie+EA%22">Mckenzie EA</searchLink>; Protein Expression Facility, Manchester Institute of Biotechnology, University of Manchester, Manchester, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Elvin+M%22">Elvin M</searchLink>; Peak Proteins Ltd., Macclesfield, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Roberts+NA%22">Roberts NA</searchLink>; Division of Cell Matrix Biology and Regenerative Medicine, School of Biological Sciences, Faculty of Biology Medicine and Health, University of Manchester, Manchester, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Woolf+AS%22">Woolf AS</searchLink>; Division of Cell Matrix Biology and Regenerative Medicine, School of Biological Sciences, Faculty of Biology Medicine and Health, University of Manchester, Manchester, United Kingdom.; Royal Manchester Children's Hospital, Manchester University NHS Foundation Trust, Manchester Academic Health Science Centre, Manchester, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Newman+WG%22">Newman WG</searchLink>; Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Manchester, United Kingdom.; Division of Evolution, Infection, and Genomics, Faculty of Biology, Medicine, and Human Sciences, University of Manchester, Manchester, United Kingdom.
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