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Article

Identification of a novel splicing mutation in the growth hormone (GH)-releasing hormone receptor gene in a Chinese family with pituitary dwarfism.

Molecular and cellular endocrinology - 10 Dec 2009

Wang Qi, Diao Ying, Xu Zhenping, Li Xiaohui, Luo Xiao Ping, Xu Haibo, Ouyang Ping, Liu Mugen, Hu Zhongli, Wang Qing K, Liu Jing Yu

Abstract excerpt

A Chinese family with autosomal recessive pituitary dwarfism was identified and the proband was evaluated by MRI and hormonal analysis, which revealed pituitary dwarfism with a complete growth hormone deficiency. MRI showed a pituitary gland with a small anterior pituitary of 2.2mm and evidence of hypoplastic pituitary. Linkage analysis with markers spanning 17 known genes for dwarfism revealed linkage of the...

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Source

Identifiers

PMID: 19733620
DOI: 10.1016/j.mce.2009.08.021

Genes

GHRHR

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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