| Title | Novel 7-DHCR mutation in a child with Smith-Lemli-Opitz syndrome |
|---|---|
| Publication Type | Articolo su Rivista peer-reviewed |
| Year of Publication | 2000 |
| Authors | Patrono, Clarice, Rizzo C., Tessa A., Giannotti A., Borrelli P., Carrozzo R., Piemonte F., Bertini E., Dionisi-Vici C., and Santorelli F.M. |
| Journal | American Journal of Medical Genetics |
| Volume | 91 |
| Pagination | 138-140 |
| ISSN | 01487299 |
| Notes | cited By 17 |
| URL | https://www.scopus.com/inward/record.uri?eid=2-s2.0-0034098984&doi=10.1002%2f%28SICI%291096-8628%2820000313%2991%3a2%3c138%3a%3aAID-AJMG12%3e3.0.CO%3b2-Q&partnerID=40&md5=a4155efffbdc4f83fe5773fb324210e7 |
| DOI | 10.1002/(SICI)1096-8628(20000313)91:2<138::AID-AJMG12>3.0.CO;2-Q |
| Citation Key | Patrono2000138 |
