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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Autores principales: 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
Formato: Texto
Lenguaje:English
Publicado: The Korean Academy of Medical Sciences 2010
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2799999/
https://www.ncbi.nlm.nih.gov/pubmed/20052364
http://dx.doi.org/10.3346/jkms.2010.25.1.159

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