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Article

Multi-genic pattern found in rare type of hypopituitarism: a whole-exome sequencing study of Han Chinese with pituitary stalk interruption syndrome.

Journal of cellular and molecular medicine - 1 Dec 2017

Guo Qing-Hua, Wang Cheng-Zhi, Wu Zhi-Qiang, Qin Yan, Han Bai-Yu, Wang An-Ping, Wang Bao-An, Dou Jing-Tao, Wu Xiao-Sheng, Mu Yi-Ming

Abstract excerpt

Pituitary stalk interruption syndrome (PSIS) is a rare type of hypopituitarism manifesting various degrees of pituitary hormone deficiency. Although mutations have been identified in some familial cases, the underpinning mechanisms of sporadic patients with PSIS who are in a vast majority remain elusive, necessitating a comprehensive study using systemic approaches. We postulate that other genetic mechanisms may...

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Identifiers

PMID: 28707430
DOI: 10.1111/jcmm.13272
PMCID: PMC5706574

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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