The National Institute of Child Health and Human Development (NICHD) has need for the services of the Foundation for Blood Research (FBR) to perform a retrospective study of 100 clinically ascertained cases of Smith-Lemli-Opitz Syndrome (SLOS), confirmed by 7-DHC testing, and obtain triple marker screening results done on the mothers of S patients.
| Bradley, L A; Palomaki, G E; Knight, G J et al. (1999) Levels of unconjugated estriol and other maternal serum markers in pregnancies with Smith-Lemli-Opitz (RSH) syndrome fetuses. Am J Med Genet 82:355-8 |
