๐”– Bobbio Scriptorium
โœฆ   LIBER   โœฆ

Autopsy Diagnosis of 21-Hydroxylase Deficiency CAH in a Case of Apparent SIDS

โœ Scribed by Tiziana G. Gozzi; Naomi P. Harris; Ivan N. McGown; David M. Cowley; Andrew M. Cotterill; Peter E. Campbell; P. Kym Anderson; Garry L. Warne

Book ID
106249654
Publisher
Springer
Year
2005
Tongue
English
Weight
843 KB
Volume
8
Category
Article
ISSN
1093-5266

No coin nor oath required. For personal study only.

๐Ÿ“œ SIMILAR VOLUMES

Prenatal diagnosis of congenital adrenal
Prenatal diagnosis of congenital adrenal hyperplasia (21-hydroxylase deficiency) in Croatia
โœ Dumic, M.; Brkljacic, L.; Plavsic, V.; Zunec, R.; Ille, J.; Wilson, R. C.; Kuvac ๐Ÿ“‚ Article ๐Ÿ“… 1997 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 71 KB ๐Ÿ‘ 2 views

We report on the prenatal diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase in 20 at-risk pregnancies (16 salt-wasting and 4 simple virilizing families). We have diagnosed 3 affected fetuses (2 males and 1 female), 3 healthy homozygotes (2 males and 1 female), and 14 healthy heterozy

Who is a carrier? Detection of unsuspect
Who is a carrier? Detection of unsuspected mutations in 21-hydroxylase deficiency
โœ Siegel Witchel, Selma ;Lee, Peter A. ;Trucco, Massimo ๐Ÿ“‚ Article ๐Ÿ“… 1996 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 44 KB ๐Ÿ‘ 1 views

Congenital adrenal hyperplasia due to 21hydroxylase deficiency is a common autosomal-recessive disorder. During our routine genotyping of affected individuals and their relatives using allele-specific oligonucleotide hybridization and single-strand conformational polymorphism analysis, we identified