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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...

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Detalles Bibliográficos
Autores principales: Seaver, Laurie H., Irons, Mira
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2009
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.
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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
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