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. |
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| 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 |
| Database: | MEDLINE Ultimate |
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| ISSN: | 1664-8021 |
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| DOI: | 10.3389/fgene.2022.896125 |
