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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Main Authors: 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
格式: Artigo
語言:Inglês
出版: The Korean Academy of Medical Sciences 2010
主題:
Case Report
在線閱讀: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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