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ACMG practice guideline: Genetic evaluation of short stature
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 p...
Autores principales: | , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Nature Publishing Group
2009
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3111030/ https://www.ncbi.nlm.nih.gov/pubmed/19451827 http://dx.doi.org/10.1097/GIM.0b013e3181a7e8f8 |
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author | Seaver, Laurie H. Irons, Mira |
author_facet | Seaver, Laurie H. Irons, Mira |
author_sort | Seaver, Laurie H. |
collection | PubMed |
description | 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. |
format | Online Article Text |
id | pubmed-3111030 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2009 |
publisher | Nature Publishing Group |
record_format | MEDLINE/PubMed |
spelling | pubmed-31110302011-09-01 ACMG practice guideline: Genetic evaluation of short stature Seaver, Laurie H. Irons, Mira Genet Med ACMG Practice Guidelines 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. Nature Publishing Group 2009-06 2009-05-14 /pmc/articles/PMC3111030/ /pubmed/19451827 http://dx.doi.org/10.1097/GIM.0b013e3181a7e8f8 Text en © American College of Medical Genetics |
spellingShingle | ACMG Practice Guidelines Seaver, Laurie H. Irons, Mira ACMG practice guideline: Genetic evaluation of short stature |
title | ACMG practice guideline: Genetic evaluation of short stature |
title_full | ACMG practice guideline: Genetic evaluation of short stature |
title_fullStr | ACMG practice guideline: Genetic evaluation of short stature |
title_full_unstemmed | ACMG practice guideline: Genetic evaluation of short stature |
title_short | ACMG practice guideline: Genetic evaluation of short stature |
title_sort | acmg practice guideline: genetic evaluation of short stature |
topic | ACMG Practice Guidelines |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3111030/ https://www.ncbi.nlm.nih.gov/pubmed/19451827 http://dx.doi.org/10.1097/GIM.0b013e3181a7e8f8 |
work_keys_str_mv | AT seaverlaurieh acmgpracticeguidelinegeneticevaluationofshortstature AT ironsmira acmgpracticeguidelinegeneticevaluationofshortstature |