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Article

Mutations in GH1 gene and isolated growth hormone deficiency (IGHD): A familial case of IGHD type I and systematic review.

Growth hormone & IGF research : official journal of the Growth Hormone Research Society and the International IGF Research Society - 1 Jan 2000

Li Qiuyue, Xu Zhenran, Zhang Miaoying, Zhao Zhuhui, Sun Bijun, Yang Lin, Lu Wei, Luo Feihong, Sun Chengjun

Abstract excerpt

BACKGROUND: Isolated growth hormone deficiency (IGHD) due to mutations in GH1 gene is a rare disease caused by deficient production of endogenous growth hormone (GH). METHODS: We reported the clinical manifestation and genetic diagnosis (whole exome sequencing [WES], nested PCR Sanger sequencing, and rtPCR) of a family with two children with IGHD type I. We conducted a systematic review of cases with IGHD and...

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PMID: 34375817
DOI: 10.1016/j.ghir.2021.101423

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