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- W2369872520 abstract "Objectives To study growth hormone receptor(GHR)gene mutation in two patients with Laron syndrome and review their clinical features.Methods Two children with sever short stature from the same Chinese family were selected in the study.Height and weight were measured.The GH-IGF-I axis function was evaluated.Genomic DNA from peripheral blood leucocytes was collected.Exons 2-9 of GHR gene and the flanking intron sequences were amplified with polymerase chain reaction(PCR),and sequenced directly.Results were compared with normal GHR gene sequence for identification of the mutation type and site.Mutations were confirmed by repeating the gene amplification and sequencing.Results Height of the patients was significantly delayed than age-matched children after birth and typical appearance of Laron syndrome were observed.Their basal GH levels were higher than normal.The IGF-I levels were lower than normal.The IGFBP-3 and GHBP were undetectable.Gene mutation analysis revealed that two patients had the same homozygous mutation of S65H in exon 4,which was a novel gene mutation.Conclusions A definite diagnosis of Laron syndrome can be made according to the typical clinical features and serum levels of GH,IGF-I,IGFBP-3 and GHBP.The S64H mutation might be the cause of Laron syndrome in these two patients." @default.
- W2369872520 created "2016-06-24" @default.
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- W2369872520 date "2007-01-01" @default.
- W2369872520 modified "2023-09-28" @default.
- W2369872520 title "The growth hormone receptor gene mutations in a Chinese family with Laron syndrome" @default.
- W2369872520 hasPublicationYear "2007" @default.
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