-transparent.png){kind=logo}
8 patients of 7 families with nonclassical adrenal hyperplasia (NCAH) were analysed for defects of the 21-hydroxylase-B-gene. As the defects were small or rare, complete molecular genetic diagnostic up to sequencing of this gene was necessary to detect the genotype, which then was associated with the phenotype. However, mutations in 4 alleles from 3 families are still undetectable. Thus, correct prenatal diagnosis in NCAH-families without index patient remains difficult.
Related Publications
D l'Allemand, and
E Keller, and
W Hoeppner, and
A Serban, and
Y Morel, and
A Grüters
December 1992,
The Journal of clinical endocrinology and metabolism,
D l'Allemand, and
E Keller, and
W Hoeppner, and
A Serban, and
Y Morel, and
A Grüters
March 2010,
The Journal of clinical endocrinology and metabolism,
D l'Allemand, and
E Keller, and
W Hoeppner, and
A Serban, and
Y Morel, and
A Grüters
June 2000,
Endocrine reviews,
D l'Allemand, and
E Keller, and
W Hoeppner, and
A Serban, and
Y Morel, and
A Grüters
January 2005,
Journal for specialists in pediatric nursing : JSPN,
D l'Allemand, and
E Keller, and
W Hoeppner, and
A Serban, and
Y Morel, and
A Grüters
September 2020,
The New England journal of medicine,
D l'Allemand, and
E Keller, and
W Hoeppner, and
A Serban, and
Y Morel, and
A Grüters
August 1987,
Pediatric clinics of North America,
D l'Allemand, and
E Keller, and
W Hoeppner, and
A Serban, and
Y Morel, and
A Grüters
December 1990,
The New England journal of medicine,
D l'Allemand, and
E Keller, and
W Hoeppner, and
A Serban, and
Y Morel, and
A Grüters
February 2004,
Nihon rinsho. Japanese journal of clinical medicine,
D l'Allemand, and
E Keller, and
W Hoeppner, and
A Serban, and
Y Morel, and
A Grüters
March 1996,
Lijecnicki vjesnik,
D l'Allemand, and
E Keller, and
W Hoeppner, and
A Serban, and
Y Morel, and
A Grüters
October 1998,
Clinical endocrinology,
