病例报告 : 由于一种新的父系遗传 IGF2 变体 , 患有 Silver - Russell 综合征样表型的儿童对生长激素的长期反应。
关键词: GH therapy IGF2 variant Silver-Russel syndrome children growth retardation
Mesh : Child Female Humans Silver-Russell Syndrome / drug therapy genetics diagnosis Growth Hormone / genetics Paternal Inheritance Phenotype Human Growth Hormone / therapeutic use genetics Fetal Growth Retardation / genetics Insulin-Like Growth Factor II / genetics
来 源:
DOI:10.3389/fendo.2024.1364234
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