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https://dipositint.ub.edu/dspace/handle/2445/208921| Title: | C syndrome - what do we know and what could the future hold? |
| Author: | Urreizti, Roser Grinberg Vaisman, Daniel Raúl Balcells Comas, Susana |
| Keywords: | Crani Diagnòstic Malformacions Skull Diagnosis Human abnormalities |
| Issue Date: | 2-Mar-2019 |
| Publisher: | Taylor & Francis |
| Abstract: | In 1969 Opitz et al. described two siblings with a new syndrome, which they called ‘C syndrome of multiple congenital abnormalities’ and was presented as a ‘probably private syndrome’. After this first description, new cases appeared with highly similar phenotypes and a new syndrome, known as C Syndrome, Opitz C Syndrome or Opitz Trigonocephaly Syndrome (OCS; MIM # 211,750) was firmly established. |
| Note: | Versió postprint del document publicat a: https://doi.org/10.1080/21678707.2019.1589448 |
| It is part of: | Expert Opinion On Orphan Drugs, 2019, vol. 7, num.3, p. 91-94 |
| URI: | https://hdl.handle.net/2445/208921 |
| Related resource: | https://doi.org/10.1080/21678707.2019.1589448 |
| ISSN: | 2167-8707 |
| Appears in Collections: | Articles publicats en revistes (Genètica, Microbiologia i Estadística) |
Files in This Item:
| File | Description | Size | Format | |
|---|---|---|---|---|
| 216084.pdf | 128.79 kB | Adobe PDF | View/Open |
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