Article
The PROP1 2-base pair deletion is a common cause of combined pituitary hormone deficiency.
The Journal of clinical endocrinology and metabolism - 1 Sept 1998
Cogan J D, Wu W, Phillips J A, Arnhold I J, Agapito A, Fofanova O V, Osorio M G, Bircan I, Moreno A, Mendonca B B
Abstract excerpt
Combined pituitary hormone deficiency (CPHD) has an incidence of approximately 1 in 8000 births. Although the proportion of familial CPHD cases is unknown, about 10% have an affected first degree relative. We have recently reported three mutations in the PROP1 gene that cause CPHD in human subjects. We report here the frequency of one of these mutations, a 301-302delAG deletion in exon 2 of PROP1, in 10...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.