Article
The phenotype and rhGH treatment response of ring Chromosome 15 Syndrome: Case report and literature review.
Molecular genetics & genomic medicine - 1 Dec 2021
Chen Meiping, Ke Xiaoan, Liang Hanting, Gong Fengying, Yang Hongbo, Wang Linjie, Duan Lian, Pan Hui, Cao Dongyan, Zhu Huijuan
Abstract excerpt
BACKGROUND: Ring chromosome 15 [r (15)] is an uncommon finding with various clinical manifestations. A common phenotype for these patients has not been established and data on the efficacy of recombinant human growth hormone (rhGH) treatment in patients with r (15) syndrome are limited. METHODS: One short stature patient in our hospital with r (15) syndrome by whole exome sequencing (WES) and karyotype...
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