๐”– Bobbio Scriptorium
โœฆ   LIBER   โœฆ

Role of a Founder c.201_202delCT Mutation and New Phenotypic Features of Congenital Lipoid Adrenal Hyperplasia in Palestinians

โœ Scribed by Abdulhadi-Atwan, Maha; Jean, Amy; Chung, Wendy K.; Meir, Karen; Ben Neriah, Ziva; Stratigopoulos, George; Oberfield, Sharon E.; Fennoy, Ilene; Hirsch, Harry J.; Bhangoo, Amrit; Ten, Svetlana; Lerer, Israela; Zangen, David H.

Book ID
124153761
Publisher
Endocrine Society
Year
2007
Tongue
English
Weight
881 KB
Volume
92
Category
Article
ISSN
0021-972X

No coin nor oath required. For personal study only.

๐Ÿ“œ SIMILAR VOLUMES

Role of a Founder c.201_202delCT Mutatio
Role of a Founder c.201_202delCT Mutation and New Phenotypic Features of Congenital Lipoid Adrenal Hyperplasia in Palestinians
โœ Abdulhadi-Atwan, Maha; Jean, Amy; Chung, Wendy K.; Meir, Karen; Ben Neriah, Ziva ๐Ÿ“‚ Article ๐Ÿ“… 2007 ๐Ÿ› Endocrine Society ๐ŸŒ English โš– 881 KB

Context: Congenital lipoid adrenal hyperplasia (CLAH), caused by mutations in steroidogenic acute regulatory protein (StAR), is most frequent in Japanese and Palestinians. We report eight Palestinians from four unrelated families with CLAH. ## Objective: The objective of the study was to identify

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