Article
IMAGe association and congenital adrenal hypoplasia: no disease-causing mutations found in the ACD gene.
Molecular genetics and metabolism - 1 May 2006
Hutz Janna E, Krause Andrea S, Achermann John C, Vilain Eric, Tauber Maïthé, Lecointre Claudine, McCabe Edward R B, Hammer Gary D, Keegan Catherine E
Abstract excerpt
The spontaneous mouse mutant adrenocortical dysplasia (acd) is characterized by defects in the adrenals, kidneys, and gonads of adult mutant mice and by caudal dysgenesis and vertebral segmentation defects in acd embryos. This association of defects mirrors those identified in patients with known or suspected abnormalities in adrenocortical development, including adrenal hypoplasia congenita and IMAGe...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.