Homozygous Loss-of-function Mutations in SOHLH1 in Patients With Nonsyndromic Hypergonadotropic Hypogonadism

CONTEXT: Hypergonadotropic hypogonadism presents in females with delayed or arrested puberty, primary or secondary amenorrhea due to gonadal dysfunction, and is further characterized by elevated gonadotropins and low sex steroids. Chromosomal aberrations and various specific gene defects can lead to...

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Veröffentlicht in:J Clin Endocrinol Metab
Hauptverfasser: Bayram, Yavuz, Gulsuner, Suleyman, Guran, Tulay, Abaci, Ayhan, Yesil, Gozde, Gulsuner, Hilal Unal, Atay, Zeynep, Pierce, Sarah B., Gambin, Tomasz, Lee, Ming, Turan, Serap, Bober, Ece, Atik, Mehmed M., Walsh, Tom, Karaca, Ender, Pehlivan, Davut, Jhangiani, Shalini N., Muzny, Donna, Bereket, Abdullah, Buyukgebiz, Atilla, Boerwinkle, Eric, Gibbs, Richard A., King, Mary-Claire, Lupski, James R.
Format: Artigo
Sprache:Inglês
Veröffentlicht: Endocrine Society 2015
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JCEM Online: Advances in Genetics
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4422898/
https://ncbi.nlm.nih.gov/pubmed/25774885
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/jc.2015-1150
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