SEMA3A deletion in a family with Kallmann syndrome validates the role of semaphorin 3A in human puberty and olfactory system development | Zendy

Jacques Young | Zendy; Corinne Métay | Zendy; Jérôme Bouligand | Zendy; Bassim Tou | Zendy; Bruno Francou | Zendy; Luigi Maione | Zendy; Lucie Tosca | Zendy; Julie Sarfati | Zendy; Frédéric Brioude | Zendy; Blandine Esteva | Zendy; Audrey BriandSuleau | Zendy; Sophie Brisset | Zendy; Michel Goossens | Zendy; Gérard Tachdjian | Zendy; Anne GuiochonMantel | Zendy

Open Access

SEMA3A deletion in a family with Kallmann syndrome validates the role of semaphorin 3A in human puberty and olfactory system development

Author(s) -

Jacques Young,

Corinne Métay,

Jérôme Bouligand,

Bassim Tou,

Bruno Francou,

Luigi Maione,

Lucie Tosca,

Julie Sarfati,

Frédéric Brioude,

Blandine Esteva,

Audrey BriandSuleau,

Sophie Brisset,

Michel Goossens,

Gérard Tachdjian,

Anne GuiochonMantel

Publication year - 2012

Publication title -

human reproduction

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 2.446

H-Index - 226

eISSN - 1460-2350

pISSN - 0268-1161

DOI - 10.1093/humrep/des022

Subject(s) - kallmann syndrome , semaphorin , biology , genetics , mutation , gene , endocrinology , neuroscience , medicine , disease , receptor , covid-19 , infectious disease (medical specialty)

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 mutations so far identified account for only 30% of cases of KS. Here, we attempted to identify new genes responsible for KS by using a pan-genomic approach.

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