Unusual case of Smith‐Lemli‐Opitz syndrome “type II”

Defective Cholesterol Biosynthesis Associated with the Smith-Lemli-Opitz Syndrome

1994 • 802 citations

A newly recognized syndromeof multiple congenital anomalies

1964 • 658 citations

Targeted misexpression of Hox-4.6 in the avian limb bud causes apparent homeotic transformations

1992 • 307 citations

Smith‐Lemli‐Opitz syndrome‐type II: Multiple congenital anomalies with male pseudohermaphroditism and frequent early lethality

1987 • 230 citations

RSH/SLO (“Smith‐Lemli‐Opitz”) syndrome: Historical, genetic, and developmental considerations

1994 • 98 citations

Female external genitalia and müllerian duct derivatives in a 46,XY infant with the Smith‐Lemli‐Opitz syndrome

1987 • 86 citations

The lethal multiple congenital anomaly syndrome of polydactyly, sex reversal, renal hypoplasia, and unilobular lungs.

1986 • 69 citations

Smith-Lemli-Opitz syndrome. II: A disorder of the fetal adrenals?

1990 • 62 citations

The mis-expression of posterior Hox-4 genes in talpid (te3) mutant wings correlates with the absence of anteroposterior polarity

1992 • 41 citations

Lethal acrodysgenital dwarfism: a severe lethal condition resembling Smith-Lemli-Opitz syndrome.

1988 • 34 citations

Prenatal diagnosis of Smith–Lemli–Opitz syndrome, type II

1994 • 27 citations