A Novel SEMA3G Mutation in Two Siblings Affected by Syndromic GnRH Deficiency - Concepedia

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A Novel SEMA3G Mutation in Two Siblings Affected by Syndromic GnRH Deficiency

DOI Full Paper Access

23

Citations

51

References

2020

Year

Roberto Oleari, Valentina Andrè, Antonella Lettieri, Sophia Tahir, Lise Roth, Alyssa Paganoni, Ivano Eberini, Chiara Parravicini, Valeria Scagliotti, Ludovica Cotellessa,

Neuroendocrinology

Abstract

In silico, in vitro, and in vivo models revealed that SEMA3G regulates GnRH neuron migration and that its mutation affecting receptor selectivity may be responsible for the HH-related defects.

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