Screening of the SHOX/PAR1 region using MLPA and miRNA expression profiling in a group of Egyptian children with non-syndromic short stature

Screening of the SHOX/PAR1 region using MLPA and miRNA expression profiling in a group of Egyptian children with non-syndromic short stature

Abstract Background Short stature is defined as a body height below the third percentile, based on chronological age, or 2 standard deviations (SD) below the national height standard. The prevalence of short stature is around 2% of children worldwide. Several gene deficiencies have been associated w...

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Bibliographic Details
Main Authors: Ola M. Eid, Maha M. Eid, Amany H. Abdelrahman, Rania M. A. Abdel kader, Marwa Farid, Rana Mahrous, Mona K. Mekkawy, Alaa K. Kamel, Inas Mazen, Hala T. El-Bassyouni
Format: Article
Language:English
Published: SpringerOpen 2020-09-01
Series:Egyptian Journal of Medical Human Genetics
Subjects:
Short stature
Copy number variations (CNVs)
Multiplex ligation-dependent probe amplification (MLPA)
SHOX
ASMT
miRNA
Online Access:http://link.springer.com/article/10.1186/s43042-020-00090-4

Internet

http://link.springer.com/article/10.1186/s43042-020-00090-4

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