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Comparative skeletal features between Homo floresiensis and patients with primary growth hormone insensitivity (Laron syndrome)

机译:弗洛雷斯人与原发性生长激素不敏感患者(Laron综合征)之间骨骼特征的比较

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摘要

Comparison between the skeletal remains of Homo floresiensis and the auxological and roentgenological findings in a large Israeli cohort of patients with Laron Syndrome (LS, primary or classical GH insensitivity or resistance) revealed striking morphological similarities, including extremely small stature and reduced cranial volume. LS is an autosomal recessive disease caused by a molecular defect of the Growth Hormone (GH) receptor or in the post-receptor cascades. Epidemiological studies have shown that LS occurs more often in consanguineous families and isolates, and it has been described in several countries in South East Asia. It is our conclusion that the findings from the island of Flores, which were attributed to a new species of the genus Homo, may in fact represent a local, highly inbred, Homo sapiens population in whom a mutation for the GH receptor had occurred.
机译:以色列弗朗西斯人的骨骼残骸与大型以色列劳伦综合征(LS,原发性或经典GH不敏感或耐药性)患者队列的生理学和放射学研究结果之间的比较显示出惊人的形态相似性,包括身材极小和颅体积减小。 LS是由生长激素(GH)受体的分子缺陷或在受体后级联反应引起的常染色体隐性遗传疾病。流行病学研究表明,LS在近亲家庭和分离株中更常见,并且在东南亚的一些国家中已有描述。我们的结论是,弗洛雷斯岛上的发现归因于人新属,实际上可能代表了本地高繁殖的智人群体,其中发生了GH受体突变。

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