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New Genetic Diagnoses of Short Stature Provide Insights into Local Regulation of Childhood Growth
Division of Pediatric Endocrinology, Department of Women’s and Children’s Health, Karolinska Institutet and Karolinska University Hospital, Stockholm, Sweden.
Section of Growth and Development, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD, USA.
Örebro University, School of Medical Sciences. Division of Pediatric Endocrinology, Department of Women’s and Children’s Health, Karolinska Institutet and Karolinska University Hospital, Stockholm, Sweden; Örebro University Hospital, Örebro, Sweden.ORCID iD: 0000-0002-9986-8138
2017 (English)In: Hormone Research in Paediatrics, ISSN 1663-2818, E-ISSN 1663-2826, Vol. 88, no 1, 22-37 p.Article, review/survey (Refereed) Published
Abstract [en]

Idiopathic short stature is a common condition with a heterogeneous etiology. Advances in genetic methods, including genome sequencing techniques and bioinformatics approaches, have emerged as important tools to identify the genetic defects in families with monogenic short stature. These findings have contributed to the understanding of growth regulation and indicate that growth plate chondrogenesis, and therefore linear growth, is governed by a large number of genes important for different signaling pathways and cellular functions, including genetic defects in hormonal regulation, paracrine signaling, cartilage matrix, and fundamental cellular processes. In addition, mutations in the same gene can cause a wide phenotypic spectrum depending on the severity and mode of inheritance of the mutation.

Place, publisher, year, edition, pages
S. Karger, 2017. Vol. 88, no 1, 22-37 p.
Keyword [en]
Short stature, Growth plate, Idiopathic short stature, Skeletal dysplasia, Genome sequencing
National Category
Endocrinology and Diabetes Pediatrics
Identifiers
URN: urn:nbn:se:oru:diva-60605DOI: 10.1159/000455850ISI: 000407926900004Scopus ID: 2-s2.0-85027704355OAI: oai:DiVA.org:oru-60605DiVA: diva2:1138364
Funder
Swedish Research Council, 521-2014-3063 2015-02227VINNOVA, 201401438Marianne and Marcus Wallenberg Foundation
Note

Funding Agencies:

Stockholm County Council  

Byggmästare Olle Engkvist's Foundation  

Stiftelsen Frimurare Barnhuset i Stockholm  

Karolinska Institutet  

Intramural Research Program of the Eunice Kennedy Shriver National Institute of Child Health and Human Development, NIH  

Stiftelsen Frimurare Barnhuset 

Available from: 2017-09-05 Created: 2017-09-05 Last updated: 2017-09-05Bibliographically approved

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