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Article

A novel mutation of exon 7 in growth hormone receptor mRNA in a patient with growth hormone insensitivity syndrome and neurofibromatosis type I.

International journal of molecular medicine - 1 Sept 2012

Kang Ju-Hyung, Kim Ok-Soon, Kim Ja-Hyun, Lee Seong-Kyu, Park Youn-Jong, Baik Haing-Woon

Abstract excerpt

Growth hormone insensitivity syndrome (GHIS), a genetic disease characterized by growth retardation combined with high serum concentration of growth hormone (GH) and low insulin-like growth factor 1 (IGF-1) levels, can be caused by mutations in the GH receptor (GHR) gene. We investigated the molecular defects in the GHR gene in a patient with neurofibromatosis type 1 (NF-1). The patient, a 2-year-old boy with...

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Source

Identifiers

PMID: 22751808
DOI: 10.3892/ijmm.2012.1048

Genes

GHR
IGFBP3
SDS

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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