When Genetic Load Does Not Correlate with Phenotypic Spectrum: Lessons from the GnRH Receptor (GNRHR)

Elena Gianetti; Janet E. Hall; Margaret G. Au; Ursula B. Kaiser; Richard Quinton; Jane A. Stewart; Daniel L. Metzger; Nelly Pitteloud; Veronica Mericq; Paulina M. Merino; Lynne L. Levitsky; Louise Izatt; Mariarosaria Lang-Muritano; Victor Y. Fujimoto; Robert G. Dluhy; Matthew L. Chase; William F. Crowley.; Lacey Plummer; Stephanie B. Seminara

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When Genetic Load Does Not Correlate with Phenotypic Spectrum: Lessons from the GnRH Receptor (GNRHR)

机译：当遗传负荷与表型谱不相关时：来自GnRH受体（GNRHR）的教训

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Context:A broad spectrum of GnRH-deficient phenotypes has been identified in individuals with both mono- and biallelic GNRHR mutations.

机译：背景：在具有单等位基因和双等位基因GNRHR突变的个体中，已鉴定出广谱的GnRH缺陷表型。

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《The journal of clinical endocrinology and metabolism》 |2012年第9期|共10页
作者
Elena Gianetti; Janet E. Hall; Margaret G. Au; Ursula B. Kaiser; Richard Quinton; Jane A. Stewart; Daniel L. Metzger; Nelly Pitteloud; Veronica Mericq; Paulina M. Merino; Lynne L. Levitsky; Louise Izatt; Mariarosaria Lang-Muritano; Victor Y. Fujimoto; Robert G. Dluhy; Matthew L. Chase; William F. Crowley.; Lacey Plummer; Stephanie B. Seminara;
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When Genetic Load Does Not Correlate with Phenotypic Spectrum: Lessons from the GnRH Receptor (GNRHR)

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