Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
3935643 | Fertility and Sterility | 2015 | 8 Pages |
Abstract
Two FGFR1 isoforms, IIIb and IIIc, result from alternative splicing of exons 8A and 8B, respectively. Loss-of-function of isoform IIIc is a cause of IHH, whereas isoform IIIb is thought to be redundant. Ours is the first report of normosmic IHH associated with a mutation in the alternatively spliced exon 8A and suggests that this disorder can be caused by defects in either of the two alternatively spliced FGFR1 isoforms.
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Authors
Catarina M.Sc., Margarida M.D., Duarte M.D., Ph.D., Teresa M.D., José M. M.D., Fernando M.D., Bernardo D. M.D., SÃlvia Ph.D., Manuel C. M.D., Ph.D.,