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SUN-032 Digenic Inheritance of PCSK1 and CHD7 Mutations in PAX4 Homozygous Diabetic Male with Normosmic Hypogonadotropic Hypogonadism

Background: Normosmic congenital hypogonadotropic hypogonadism denotes Kallmann syndrome not associated with anosmia or hyposmia. Over the past few years, the availability of next-generation sequencing has started to unravel the complex molecular basis of congenital hypogonadotrophic hypogonadism in...

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Detaylı Bibliyografya
Yayımlandı:J Endocr Soc
Asıl Yazarlar: Cho, Yun Kyung, Kim, Sang-Wook
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Oxford University Press 2020
Konular:
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC7208522/
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/jendso/bvaa046.874
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