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Genetics of Short Stature
Program in Developmental Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, CRC, Bethesda MD, United States.
Division of Pediatric Endocrinology, Department of Women's and Children's Health, Karolinska Institutet, Karolinska University Hospital, Solna, Sweden.
Program in Developmental Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, CRC, Bethesda MD, United States.
Örebro universitet, Institutionen för medicinska vetenskaper. Division of Pediatric Endocrinology, Department of Women's and Children's Health, Karolinska Institutet, Karolinska University Hospital, Solna, Sweden.ORCID-id: 0000-0002-9986-8138
2017 (engelsk)Inngår i: Endocrinology and metabolism clinics of North America (Print), ISSN 0889-8529, E-ISSN 1558-4410, Vol. 46, nr 2, s. 259-281Artikkel i tidsskrift (Fagfellevurdert) Published
Abstract [en]

Short stature is a common and heterogeneous condition that is often genetic in etiology. For most children with genetic short stature, the specific molecular causes remain unknown; but with advances in exome/genome sequencing and bioinformatics approaches, new genetic causes of growth disorders have been identified, contributing to the understanding of the underlying molecular mechanisms of longitudinal bone growth and growth failure. Identifying new genetic causes of growth disorders has the potential to improve diagnosis, prognostic accuracy, and individualized management, and help avoid unnecessary testing for endocrine and other disorders.

sted, utgiver, år, opplag, sider
Saunders Elsevier, 2017. Vol. 46, nr 2, s. 259-281
Emneord [en]
Short stature, Genetic causes, Growth plate, Genome-wide association study, Exome sequencing
HSV kategori
Identifikatorer
URN: urn:nbn:se:oru:diva-58790DOI: 10.1016/j.ecl.2017.01.001ISI: 000402781900004PubMedID: 28476223Scopus ID: 2-s2.0-85013645122OAI: oai:DiVA.org:oru-58790DiVA, id: diva2:1128560
Forskningsfinansiär
Swedish Research Council, 521-2014-3063 2015-02227NIH (National Institute of Health), ZIA HD000640Marianne and Marcus Wallenberg Foundation, 2014.0096VINNOVA, 2014-01438
Merknad

Funding Agencies:

Intramural Research Program of the Eunice Kennedy Shriver National Institute of Child Health and Human Development  ZIA HD000640

Stockholm County Council  2015-0442 

Byggmästare Olle Engkvist's Foundation  2015/27 

Stiftelsen Frimurare Barnhuset i Stockholm  

Karolinska Institutet 

Sällskapet Barnavård 

Tilgjengelig fra: 2017-07-26 Laget: 2017-07-26 Sist oppdatert: 2017-09-19bibliografisk kontrollert

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