Whole-Exome Sequencing Identifies Homozygous GPR161 Mutation in a Family with Pituitary Stalk Interruption Syndrome

CONTEXT: Pituitary stalk interruption syndrome (PSIS) is a rare, congenital anomaly of the pituitary gland characterized by pituitary gland insufficiency, thin or discontinuous pituitary stalk, anterior pituitary hypoplasia, and ectopic positioning of the posterior pituitary gland (neurohypophysis)....

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Detaylı Bibliyografya
Yayımlandı:J Clin Endocrinol Metab
Asıl Yazarlar: Karaca, Ender, Buyukkaya, Ramazan, Pehlivan, Davut, Charng, Wu-Lin, Yaykasli, Kursat O., Bayram, Yavuz, Gambin, Tomasz, Withers, Marjorie, Atik, Mehmed M., Arslanoglu, Ilknur, Bolu, Semih, Erdin, Serkan, Buyukkaya, Ayla, Yaykasli, Emine, Jhangiani, Shalini N., Muzny, Donna M., Gibbs, Richard A., Lupski, James R.
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Endocrine Society 2015
Konular:
JCEM Online: Advances in Genetics
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC4283017/
https://ncbi.nlm.nih.gov/pubmed/25322266
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/jc.2014-1984
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