Photo from wikipedia
Smith–Lemli–Opitz syndrome is an autosomal recessive disease caused by mutations in 7-dehydrocholesterol reductase (DHCR7), which is rarely observed in Japan. We report a Japanese case with 46,XY disorder of sex… Click to show full abstract
Smith–Lemli–Opitz syndrome is an autosomal recessive disease caused by mutations in 7-dehydrocholesterol reductase (DHCR7), which is rarely observed in Japan. We report a Japanese case with 46,XY disorder of sex development and Y-shaped 2–3 toe syndactyly. DHCR7 gene analysis revealed compound heterozygous mutations including the novel mutation H442R. Early diagnosis led to starting cholesterol treatment at an early age.
Keywords:
lemli opitz;
opitz syndrome;
sex development;
smith lemli;
disorder sex;
dhcr7
Journal Title: Human Genome Variation
Year Published: 2017
Link to full text (if available)
Share on Social Media: Sign Up to like & get
recommendations!
Journal Title: Human Genome Variation
Year Published: 2017
Link to full text (if available)
Share on Social Media: Sign Up to like & get
recommendations!