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Endocrinol Metab Clin North Am. 2017 Jun;46(2):259-281. doi: 10.1016/j.ecl.2017.01.001. Epub 2017 Feb 23.

Genetics of Short Stature.

Author information

1
Program in Developmental Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, CRC, Room 1-3330, 10 Center Drive MSC 1103, Bethesda, MD 20892-1103, USA. Electronic address: jeeyh@mail.nih.gov.
2
Division of Pediatric Endocrinology, Department of Women's and Children's Health, Karolinska Institutet, Karolinska University Hospital, Solnavägen 1, Solna 171 77, Sweden.
3
Program in Developmental Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, CRC, Room 1-3330, 10 Center Drive MSC 1103, Bethesda, MD 20892-1103, USA.
4
Division of Pediatric Endocrinology, Department of Women's and Children's Health, Karolinska Institutet, Karolinska University Hospital, Solnavägen 1, Solna 171 77, Sweden; University Hospital, Örebro University, Södra Grev Rosengatan, Örebro 701 85, Sweden.

Abstract

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.

KEYWORDS:

Exome sequencing; Genetic causes; Genome-wide association study; Growth plate; Short stature

PMID:
28476223
PMCID:
PMC5424617
DOI:
10.1016/j.ecl.2017.01.001
[Indexed for MEDLINE]
Free PMC Article

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