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Novel 7-DHCR mutation in a child with Smith-Lemli-Opitz syndrome

TitoloNovel 7-DHCR mutation in a child with Smith-Lemli-Opitz syndrome
Tipo di pubblicazioneArticolo su Rivista peer-reviewed
Anno di Pubblicazione2000
AutoriPatrono, Clarice, Rizzo C., Tessa A., Giannotti A., Borrelli P., Carrozzo R., Piemonte F., Bertini E., Dionisi-Vici C., and Santorelli F.M.
RivistaAmerican Journal of Medical Genetics
Volume91
Paginazione138-140
ISSN01487299
Note

cited By 17

URLhttps://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
DOI10.1002/(SICI)1096-8628(20000313)91:2<138::AID-AJMG12>3.0.CO;2-Q
Citation KeyPatrono2000138