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Classical 3 beta-hydroxysteroid dehydrogenase/delta 5-delta 4-isomerase (3 beta-HSD) deficiency is an autosomal recessive form of congenital adrenal hyperplasia characterized by a severe impairment of steroid biosynthesis in both the adrenals and the gonads. We describe the nucleotide sequence of the two highly homologous genes encoding 3 beta-HSD isoenzymes in three classic 3 beta-HSD deficient patients belonging to two apparently unrelated pedigrees. No mutation was detected in the type I 3 beta-HSD gene, which is mainly expressed in the placenta and peripheral tissues. Both nonsense and frameshift mutations, however, were found in the type II 3 beta-HSD gene, which is the predominant 3 beta-HSD gene expressed in the adrenals and gonads, thus providing the first elucidation of the molecular basis of this disorder.
E Rhéaume, and
J Simard, and
Y Morel, and
F Mebarki, and
M Zachmann, and
M G Forest, and
M I New, and
F Labrie
April 1996,
European journal of pediatrics,
E Rhéaume, and
J Simard, and
Y Morel, and
F Mebarki, and
M Zachmann, and
M G Forest, and
M I New, and
F Labrie
November 1993,
Pediatric research,
E Rhéaume, and
J Simard, and
Y Morel, and
F Mebarki, and
M Zachmann, and
M G Forest, and
M I New, and
F Labrie
January 1979,
Archives francaises de pediatrie,
E Rhéaume, and
J Simard, and
Y Morel, and
F Mebarki, and
M Zachmann, and
M G Forest, and
M I New, and
F Labrie
April 1995,
Human molecular genetics,
E Rhéaume, and
J Simard, and
Y Morel, and
F Mebarki, and
M Zachmann, and
M G Forest, and
M I New, and
F Labrie
March 2001,
Endocrinology and metabolism clinics of North America,
E Rhéaume, and
J Simard, and
Y Morel, and
F Mebarki, and
M Zachmann, and
M G Forest, and
M I New, and
F Labrie
September 2004,
Saudi medical journal,
E Rhéaume, and
J Simard, and
Y Morel, and
F Mebarki, and
M Zachmann, and
M G Forest, and
M I New, and
F Labrie
September 2004,
Revue medicale de Liege,
E Rhéaume, and
J Simard, and
Y Morel, and
F Mebarki, and
M Zachmann, and
M G Forest, and
M I New, and
F Labrie
October 2006,
Vnitrni lekarstvi,
E Rhéaume, and
J Simard, and
Y Morel, and
F Mebarki, and
M Zachmann, and
M G Forest, and
M I New, and
F Labrie
February 1993,
Endocrine journal,
E Rhéaume, and
J Simard, and
Y Morel, and
F Mebarki, and
M Zachmann, and
M G Forest, and
M I New, and
F Labrie
April 1983,
The Journal of clinical endocrinology and metabolism,
