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Vol. 60, No. 4, 2003
Issue release date: 2003
Section title: Review
Horm Res 2003;60:157–165
(DOI:10.1159/000073226)

Genetic Analysis of Short Stature

Kant S.G.a · Wit J.M.b · Breuning M.H.a
aCHCG Department of Clinical Genetics, and bDepartment of Pediatrics, Leiden University Medical Center, Leiden, The Netherlands

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Article / Publication Details

First-Page Preview
Abstract of Review

Received: 7/8/2003
Accepted: 7/11/2003
Published online: 10/15/2003
Issue release date: 2003

Number of Print Pages: 9
Number of Figures: 1
Number of Tables: 4

ISSN: 1663-2818 (Print)
eISSN: 1663-2826 (Online)

For additional information: http://www.karger.com/HRP

Abstract

Short stature is a major concern for patients and their parents, and represents a diagnostic challenge to the clinician. A correct diagnosis is of particular importance in view of the availability of effective, but costly, therapy in a small subset of cases. Many different genetic etiologies of short stature are known. Therefore, chromosome as well as molecular analysis are requisite diagnostic investigations in children with short stature. Particularly in the group of children with idiopathic short stature, possibilities of molecular analysis are often underestimated. Important options are UPD7 and the FGFR3, SHOX, GH1 and GHR genes. Furthermore, analysis of the IGF and IGF1R genes should be considered. We propose a flow chart for molecular analysis in short stature.

© 2003 S. Karger AG, Basel


  

Author Contacts

S.G. Kant
Center for Human and Clinical Genetics (CHCG)
Department of Clinical Genetics, Leiden University Medical Center, K5-R
PO Box 9600, 2300 RC Leiden (The Netherlands)
Tel. +31 71 5268033, Fax +31 71 5266749, E-Mail s.g.kant@lumc.nl

  

Article Information

J.M. Wit is a member of ESPE.

Received: July 11, 2002
Accepted: July 8, 2003
Number of Print Pages : 9
Number of Figures : 1, Number of Tables : 4, Number of References : 66

  

Publication Details

Hormone Research (International Journal of Experimental and Clinical Endocrinology)
Founded 1970 as ‘Hormones’ by M. Marois, Continued 1976 by J. Girard (1976–1995)
Official Organ of the European Society for Paediatric Endocrinology

Vol. 60, No. 4, Year 2003 (Cover Date: 2003)

Journal Editor: M.B. Ranke, Tübingen
ISSN: 0301–0163 (print), 1423–0046 (Online)

For additional information: http://www.karger.com/journals/hre


Article / Publication Details

First-Page Preview
Abstract of Review

Received: 7/8/2003
Accepted: 7/11/2003
Published online: 10/15/2003
Issue release date: 2003

Number of Print Pages: 9
Number of Figures: 1
Number of Tables: 4

ISSN: 1663-2818 (Print)
eISSN: 1663-2826 (Online)

For additional information: http://www.karger.com/HRP


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