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Updated: Jul 8, 2025

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16名患有 pituitary stalk中断综合征的患者的外测序:一个单心研究

Raja Brauner1, Joelle Bignon-Topalovic2, Anu Bashamboo2

  • 1Pediatric Endocrinology Unit, Hôpital Fondation Adolphe de Rothschild and Université Paris Cité, Paris, France.

PloS one
|December 14, 2023
PubMed
概括

垂体茎中断综合征 (PSIS) 是罕见的. 外基因组测序发现了很少的致病变体,突出了诊断孤立PSIS病例的挑战. 对脑下垂体发育的遗传联系需要进一步研究.

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Genome-wide Association Studies-GWAS01:11

Genome-wide Association Studies-GWAS

Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
GWAS does not require the identification of the target gene involved in...
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