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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Vydáno v:J Clin Endocrinol Metab
Hlavní autoři: 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.
Médium: Artigo
Jazyk:Inglês
Vydáno: Endocrine Society 2015
Témata:
JCEM Online: Advances in Genetics
On-line přístup: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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