DHCR7 and Smith-Lemli-Opitz syndrome. Journal Articles

authors

• Nowaczyk, Malgorzata
• Nakamura, LM
• Waye, John

status

• published 

publication date

• December 2001

has subject area

• 11 Medical and Health Sciences (FoR)
• Child, Preschool (MeSH)
• Cholesterol (MeSH)
• General Clinical Medicine (Science Metrix)
• Genetic Carrier Screening (MeSH)
• Humans (MeSH)
• Male (MeSH)
• Mutation (MeSH)
• Oxidoreductases (MeSH)
• Oxidoreductases Acting on CH-CH Group Donors (MeSH)
• Phenotype (MeSH)
• Prenatal Diagnosis (MeSH)
• Smith-Lemli-Opitz Syndrome (MeSH)

published in

• Clinical and Investigative Medicine  Journal

keywords

• Child, Preschool
• Cholesterol
• Genetic Carrier Screening
• Humans
• Male
• Mutation
• Oxidoreductases
• Oxidoreductases Acting on CH-CH Group Donors
• Phenotype
• Prenatal Diagnosis
• Smith-Lemli-Opitz Syndrome

PubMed ID

• 11767235

start page

• 311

end page

• 317

volume

• 24

issue

• 6