Homozygosity for the W151X stop mutation in the Δ7-sterol reductase gene (DHCR7) causing a lethal form of Smith-Lemli-Opitz syndrome: Retrospective molecular diagnosis

Smith‐Lemli‐Opitz syndrome (SLOS) is a multiple congenital anomalies syndrome caused by an abnormality in cholesterol metabolism. The clinical severity may vary from very mild to lethality in utero, making diagnosis difficult at both ends of the spectrum. Patients with severe SLOS might often escape...

Ausführliche Beschreibung

Bibliographische Detailangaben

Veröffentlicht in:	American journal of medical genetics 2000-11, Vol.95 (2), p.174-177
Hauptverfasser:	Löffler, Judith, Trojovsky, Alexander, Casati, Bettina, Kroisel, Peter M., Utermann, Gerd
Format:	Artikel
Sprache:	eng
Schlagworte:	Biological and medical sciences Errors of metabolism homozygosity for W151X lethal form of SLOS Lipids (lysosomal enzyme disorders, storage diseases) Medical sciences Metabolic diseases mutations in the DHCR7 gene RSH-syndrome Smith-Lemli-Opitz syndrome
Online-Zugang:	Volltext
Tags:	Tag hinzufügen Keine Tags, Fügen Sie den ersten Tag hinzu!