THE SMITH‐LEMLI‐OPITZ SYNDROME IN A PROFOUNDLY RETARDED EPILEPTIC BOY

Identification of human chromosomes by DNA-binding fluorescent agents

T. Caspersson, L. Zech, C. Johansson et al. · Chromosoma · 1970 · 980 citations

Life Sciences, Genetics, Molecular Biology +14

A newly recognized syndromeof multiple congenital anomalies

David W. Smith, Luc Lemli, John M. Opitz · The Journal of Pediatrics · 1964 · 662 citations

Medicine, Obstetrics, Pediatrics +9

METHODOLOGY IN HUMAN GENETICS

Diane Sank · Journal of Heredity · 1962 · 64 citations

Life Sciences, Biology, Genetics +6

Syndrome of retardation with urogenital and skeletal anomalies (Smith-Lemli-Opitz syndrome): clinical features and mode of inheritance.

Louis Dallaire · Journal of Medical Genetics · 1969 · 48 citations · Full text

Medicine, Pediatrics, Human Genetics +13

A familial syndrome of facial and skeletal anomalies associated with genital abnormality in the male and normal genitals in the female

Leonard Pinsky, Angelo M. DiGeorge · The Journal of Pediatrics · 1965 · 44 citations

Medicine, Anatomy, Pediatrics +13