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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Gepubliceerd in:J Clin Endocrinol Metab
Hoofdauteurs: 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.
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: Endocrine Society 2015
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JCEM Online: Advances in Genetics
Online toegang: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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