Article
SEMA3A deletion in a family with Kallmann syndrome validates the role of semaphorin 3A in human puberty and olfactory system development.
Human reproduction (Oxford, England) - 1 May 2012
Young Jacques, Metay Corinne, Bouligand Jerome, Tou Bassim, Francou Bruno, Maione Luigi, Tosca Lucie, Sarfati Julie, Brioude Frédéric, Esteva Blandine, Briand-Suleau Audrey, Brisset Sophie, Goossens Michel, Tachdjian Gerard, Guiochon-Mantel Anne
Abstract excerpt
BACKGROUND: Kallmann syndrome (KS) is a genetic disorder associating pubertal failure with congenitally absent or impaired sense of smell. KS is related to defective neuronal development affecting both the migration of olfactory nerve endings and GnRH neurons. The discovery of several genetic mutations responsible for KS led to the identification of signaling pathways involved in these processes, but the...
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