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Article

A novel DHCR7 mutation in a Smith-Lemli-Opitz syndrome infant presenting with neonatal cholestasis.

Journal of Korean medical science - 1 Jan 2010

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

Abstract excerpt

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, ambiguous genitalia, cleft palate, syndactyly of toes, patent ductus arteriosus and hypertrophic pyloric stenosis. The...

Topics

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Cholestasis
Ductus Arteriosus, Patent
Electroencephalography
Liver
Mutation, Missense

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Oxidoreductases Acting on CH-CH Group Donors

Smith-Lemli-Opitz Syndrome

Ultrasonography

Source

Open in PubMed Open full text

Identifiers

PMID: 20052364
DOI: 10.3346/jkms.2010.25.1.159
PMCID: PMC2799999

Genes

DHCR7

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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