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Genetics of Short S...
Genetics of Short Stature
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- Jee, Youn Hee (författare)
- 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
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- Andrade, Anenisia C. (författare)
- Division of Pediatric Endocrinology, Department of Women's and Children's Health, Karolinska Institutet, Karolinska University Hospital, Solna, Sweden
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- Baron, Jeffrey (författare)
- 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
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- Nilsson, Ola, 1970- (författare)
- Karolinska Institutet,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
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(creator_code:org_t)
- Saunders Elsevier, 2017
- 2017
- Engelska.
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Ingår i: Endocrinology and metabolism clinics of North America (Print). - : Saunders Elsevier. - 0889-8529 .- 1558-4410. ; 46:2, s. 259-281
- Relaterad länk:
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https://europepmc.or...
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https://urn.kb.se/re...
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https://doi.org/10.1...
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http://kipublication...
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Abstract
Ämnesord
Stäng
- 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.
Ämnesord
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Endokrinologi och diabetes (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Endocrinology and Diabetes (hsv//eng)
Nyckelord
- Short stature
- Genetic causes
- Growth plate
- Genome-wide association study
- Exome sequencing
Publikations- och innehållstyp
- ref (ämneskategori)
- art (ämneskategori)
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