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Loss-of-Function Mutations in SEMA3F and gePLXNA3 Encoding Semaphorin-3F and its Receptor Plexin-A3...

Loss-of-Function Mutations in SEMA3F and gePLXNA3 Encoding Semaphorin-3F and its Receptor Plexin-A3...

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_7612467

Loss-of-Function Mutations in SEMA3F and gePLXNA3 Encoding Semaphorin-3F and its Receptor Plexin-A3 Respectively Cause Idiopathic Hypogonadotropic Hypogonadism

About this item

Full title

Loss-of-Function Mutations in SEMA3F and gePLXNA3 Encoding Semaphorin-3F and its Receptor Plexin-A3 Respectively Cause Idiopathic Hypogonadotropic Hypogonadism

Journal title

Genetics in medicine, 2021-01, Vol.23 (6), p.1008-1016

Language

English

Formats

More information

Scope and Contents

Contents

Idiopathic hypogonadotropic hypogonadism (IHH) is a rare genetic condition characterized by absent puberty and infertility due to gonadotropin-releasing hormone (GnRH) deficiency. IHH can be accompanied by normal (normosmic IHH, nIHH) or compromised olfaction (Kallmann syndrome, KS). Several semaphorins have been shown to be potent modulators of th...

Alternative Titles

Full title

Loss-of-Function Mutations in SEMA3F and gePLXNA3 Encoding Semaphorin-3F and its Receptor Plexin-A3 Respectively Cause Idiopathic Hypogonadotropic Hypogonadism

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_7612467

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_7612467

Other Identifiers

ISSN

1098-3600

E-ISSN

1530-0366

DOI

10.1038/s41436-020-01087-5

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