OR06-6 Whole-Exome Sequencing of Patients with Pituitary Stalk Interruption Syndrome (PSIS) Reveals Probably Pathogenic Variants in Novel Candidate Genes.

Background: Pituitary Stalk Interruption Syndrome (PSIS) is characterized by the presence of a thin or absent pituitary stalk, usually associated with an ectopic posterior pituitary, hypoplasia of the anterior pituitary and pituitary hormone deficiencies. The identification of pathogenic va...

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Vydáno v:J Endocr Soc
Hlavní autoři: Correa, Fernanda, Nakaguma, Marilena, Jorge, Alexander, Funari, Mariana, Lerario, Antonio, Carvalho, Luciani, Arnhold, Ivo, Mendonca, Berenice
Médium: Artigo
Jazyk:Inglês
Vydáno: Endocrine Society 2019
Témata:
Neuroendocrinology and Pituitary
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC6555002/
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/js.2019-OR06-6
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