Beaman, Glenda M. ; Lopes, Filipa M. ; Hofmann, Aybike ; Roesch, Wolfgang ; Promm, Martin ; Bijlsma, Emilia K. ; Patel, Chirag 
; Akinci, Aykut ; Burgu, Berk ; Knijnenburg, Jeroen ; Ho, Gladys ; Aufschlaeger, Christina ; Dathe, Sylvia ; Voelckel, Marie Antoinette ; Cohen, Monika ; Yue, Wyatt W. ; Stuart, Helen M. ; Mckenzie, Edward A. ; Elvin, Mark ; Roberts, Neil A. ; Woolf, Adrian S. ; Newman, William G.
; Akinci, Aykut ; Burgu, Berk ; Knijnenburg, Jeroen ; Ho, Gladys ; Aufschlaeger, Christina ; Dathe, Sylvia ; Voelckel, Marie Antoinette ; Cohen, Monika ; Yue, Wyatt W. ; Stuart, Helen M. ; Mckenzie, Edward A. ; Elvin, Mark ; Roberts, Neil A. ; Woolf, Adrian S. ; Newman, William G. Expanding the HPSE2 Genotypic Spectrum in Urofacial Syndrome, A Disease Featuring a Peripheral Neuropathy of the Urinary Bladder
Beaman, Glenda M., Lopes, Filipa M., Hofmann, Aybike, Roesch, Wolfgang, Promm, Martin, Bijlsma, Emilia K., Patel, Chirag, Akinci, Aykut, Burgu, Berk, Knijnenburg, Jeroen, Ho, Gladys, Aufschlaeger, Christina, Dathe, Sylvia, Voelckel, Marie Antoinette, Cohen, Monika, Yue, Wyatt W., Stuart, Helen M. , Mckenzie, Edward A., Elvin, Mark, Roberts, Neil A., Woolf, Adrian S. and Newman, William G.
(2022)
Expanding the HPSE2 Genotypic Spectrum in Urofacial Syndrome, A Disease Featuring a Peripheral Neuropathy of the Urinary Bladder.
Frontiers in Genetics 13.
Date of publication of this fulltext: 29 Feb 2024 13:02
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| Item type | Article | ||||
| Journal or Publication Title | Frontiers in Genetics | ||||
| Publisher: | Frontiers | ||||
|---|---|---|---|---|---|
| Place of Publication: | LAUSANNE | ||||
| Volume: | 13 | ||||
| Date | 2022 | ||||
| Institutions | Medicine > Lehrstuhl für Urologie | ||||
| Identification Number |
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| Keywords | JOINT CONSENSUS RECOMMENDATION; HEPARANASE 2; MEDICAL GENETICS; AMERICAN-COLLEGE; OCHOA-SYNDROME; GENOMICS; CHILD; HPA2; TRIPLICATION; EXPRESSION; HPSE2; urofacial; heparanase-2; LRIG2; missense; Ochoa syndrome; triplication; rare disease | ||||
| Dewey Decimal Classification | 600 Technology > 610 Medical sciences Medicine | ||||
| Status | Published | ||||
| Refereed | Yes, this version has been refereed | ||||
| Created at the University of Regensburg | Yes | ||||
| Item ID | 57743 |
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