ACMG practice guideline: genetic evaluation of short stature.
ACMG practice guideline: genetic evaluation of short stature.
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DOI：
10.1097/gim.0b013e3181a7e8f8
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发表时间：
2009-06
期刊：
影响因子：
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通讯作者：
American College of Medical Genetics (ACMG) Professional Practice and Guidelines Committee
中科院分区：
文献类型：
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作者：
Seaver LH;Irons M;American College of Medical Genetics (ACMG) Professional Practice and Guidelines Committee
身材矮小是遗传评估的常见指征。鉴别诊断是广泛的，包括身材矮小的病理原因和非病理原因。矮小症遗传评估的目的是为医疗管理提供准确的诊断，并为患者和家庭提供预后和复发风险咨询。没有证据为基础的数据，以指导遗传学家在一个有效的，具有成本效益的方法来评估患者身材矮小。本指南提供了一个评价矮小症的标准，并总结了常见的诊断和临床试验。
Short stature is a common indication for genetic evaluation. The differential diagnosis is broad and includes both pathologic causes of short stature and nonpathologic causes. The purpose of genetic evaluation for short stature is to provide accurate diagnosis for medical management and to provide prognosis and recurrence risk counseling for the patient and family. There is no evidence-based data to guide the geneticist in an efficient, cost-effective approach to the evaluation of a patient with short stature. This guideline provides a rubric for the evaluation of short stature evaluation and summarizes common diagnoses and clinical testing available.