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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 University Hospital, Karolinska Institutet, 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 universitet, Institutionen för medicinska vetenskaper. Division of Pediatric Endocrinology, Department of Women’s and Children’s Health, Karolinska University Hospital, Karolinska Institutet, Stockholm, Sweden; Örebro University Hospital, Örebro, Sweden.ORCID-id: 0000-0002-9986-8138
2017 (Engelska)Ingår i: Hormone Research in Paediatrics, ISSN 1663-2818, E-ISSN 1663-2826, Vol. 88, nr 1, s. 22-37Artikel, forskningsöversikt (Refereegranskat) 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.

Ort, förlag, år, upplaga, sidor
S. Karger, 2017. Vol. 88, nr 1, s. 22-37
Nyckelord [en]
Short stature, Growth plate, Idiopathic short stature, Skeletal dysplasia, Genome sequencing
Nationell ämneskategori
Endokrinologi och diabetes Pediatrik
Identifikatorer
URN: urn:nbn:se:oru:diva-60605DOI: 10.1159/000455850ISI: 000407926900004Scopus ID: 2-s2.0-85027704355OAI: oai:DiVA.org:oru-60605DiVA, id: diva2:1138364
Forskningsfinansiär
Vetenskapsrådet, 521-2014-3063 2015-02227VINNOVA, 201401438Marianne och Marcus Wallenbergs Stiftelse
Anmärkning

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 

Tillgänglig från: 2017-09-05 Skapad: 2017-09-05 Senast uppdaterad: 2018-08-05Bibliografiskt granskad

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Nilsson, Ola

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