Yayınlanmış 1 Ocak 2019
| Sürüm v1
Dergi makalesi
Açık
Variants affecting diverse domains of MEPE are associated with two distinct bone disorders, a craniofacial bone defect and otosclerosis
Oluşturanlar
- Schrauwen, Isabelle
- Valgaeren, Hanne
- Tomas-Roca, Laura
- Sommen, Manou
- Altunoglu, Umut1
- Wesdorp, Mieke
- Beyens, Matthias
- Fransen, Erik
- Nasir, Abdul2
- Vandeweyer, Geert
- Schepers, Anne
- Rahmoun, Malika
- van Beusekom, Ellen3
- Huentelman, Matt J.4
- Offeciers, Erwin5
- Dhooghe, Ingeborg6
- Huber, Alex7
- Van de Heyning, Paul8
- Zanetti, Diego9
- De Leenheer, Els M. R.
- De Leenheer, Els M. R.
- 1. Istanbul Univ, Istanbul Fac Med, Dept Med Genet, Istanbul, Turkey
- 2. Ajou Univ, Dept Mol Sci & Technol, Synthet Prot Engn Lab SPEL, Suwon, South Korea
- 3. Radboud Univ Nijmegen, Dept Human Genet, Med Ctr, Nijmegen, Netherlands
- 4. Translat Genom Res Inst, Neurogen Div, Phoenix, AZ USA
- 5. St Augustinus Hosp Antwerp, European Inst ORL, Antwerp, Belgium
- 6. Ghent Univ Hosp, Dept Otolaryngol, Ghent, Belgium
- 7. Univ Hosp Zurich, Dept Otorhinolaryngol Head & Neck Surg, Zurich, Switzerland
- 8. Univ Antwerp, Univ Antwerp Hosp, Dept ORL & Head & Neck Surg, Edegem, Belgium
- 9. Univ Milan, Dept Clin Sci & Community Hlth, Osp Maggiore Policlin, Audiol Unit,IRCCS Fdn Ca Granda, Milan, Italy
Açıklama
Purpose: To characterize new molecular factors implicated in a hereditary congenital facial paresis (HCFP) family and otosclerosis.
Dosyalar
bib-c9200aa1-d5f1-4a35-8ac0-96a7194cc225.txt
Dosyalar
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473 Bytes | Ön İzleme İndir |