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ey0018.4-2 | Important for clinical practice | ESPEYB18

4.2. Clinical characteristics of short-stature patients with an NPR2 mutation and the therapeutic response to rhGH

Ke X , Liang H , Miao H , Yang H , Wang L , Gong F , Pan H , Zhu H

Clin Endocrinol Metab. 2021;106(2):431441. doi: 10.1210/clinem/dgaa842. PMID: 33205215This study aimed to describe the clinical characteristics of 6 patients with NPR2 gene mutations and the response to rhGH treatment in 2 of them.The natriuretic peptide receptor 2 gene (NPR2) is a paracrine factor involved in the regulation of cell proliferati...

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ey0015.12-15 | New Genes | ESPEYB15

12.15 A LIMA1 variant promotes low plasma LDL cholesterol and decreases intestinal cholesterol absorption

Y-Y Zhang , Z-Y Fu , J Wei , W Qi , G Baituola , J Luo , Y-J Meng , S-Y Guo , H Yin , S-Y Jiang , Y-F Li , H-H Miao , Y Liu , Y Wang , B-L Li , Y-T Ma , B-L Song

To read the full abstract: Science 2018;360:1087-1092During the Cardiovascular Risk Survey in western China, a Kazakh family with inherited low levels of LDL-C was identified. The Kazakhs are mainly descendent from the Turkic and medieval Mongol peoples, they live in isolated regions and usually marry within their own ethnic group. They exhibit often unique differences in single nucleotide vari...

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ESPE Yearbook of Paediatric Endocrinology

4.2. Clinical characteristics of short-stature patients with an NPR2 mutation and the therapeutic response to rhGH

12.15 A LIMA1 variant promotes low plasma LDL cholesterol and decreases intestinal cholesterol absorption

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