A Novel DHCR7 Mutation in a Smith-Lemli-Opitz Syndrome Infant Presenting with Neonatal Cholestasis

Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive malformation syndrome caused by a defect in cholesterol biosynthesis. The incidence is very low in Asians and only one case has been reported in Korea thus far. Recently, we found an infant with neonatal cholestasis. He had microcephaly, am...

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Detaylı Bibliyografya
Asıl Yazarlar: Ko, Jae Sung, Choi, Byung Sam, Seo, Jeong Kee, Shin, Jee Yeon, Chae, Jong Hee, Kang, Gyeong Hoon, Lee, Ran, Ki, Chang-Seok, Kim, Jong-Won
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: The Korean Academy of Medical Sciences 2010
Konular:
Case Report
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC2799999/
https://ncbi.nlm.nih.gov/pubmed/20052364
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3346/jkms.2010.25.1.159
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